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The perception of adolescent medicine (AM) among future pediatricians in France has scarcely been explored although adolescent health care is an integral part of the pediatrician's job. Moreover, pediatric residents seem to have a lack of enthusiasm for this field. The aim of this study was to assess the beliefs and perceptions of fourth-year French pediatric residents regarding adolescents and AM.We conducted a national electronic survey among French pediatric residents in their last year of residency. An original 51-item, open-ended declarative questionnaire was sent out including questions on demographics, career expectations, AM block rotation experiences, and perceptions and beliefs regarding adolescents and AM. Difficulties and barriers experienced in this field were investigated. Queries about residents' specific AM courses and about their educational needs were also explored.The survey was conducted online between January and March 2015. There were 121 respondents, achieving a 43% response rate. The majority of respondents perceived teens as interesting (75%), vulnerable (83%), and time-consuming (84%). Up to four fifths of respondents (81%) considered AM to be a skill that all pediatricians should acquire. A subgroup analysis showed that the residents who had not experienced an AM block rotation did not seem to be convinced of the need for training in this field (P=0.09). The following issues were reported as major difficulties by residents: providing care for teens reluctant to seek health care (65%), managing violent behavior among adolescents in the emergency ward (98%), and managing adolescents who attempt suicide (80%). Less than half (45%) of the residents reported their residency program had a specific AM course. Among them, 73% attended the lectures and 57% found them useful. One third (32%) of the respondents had experienced a 2-month block rotation in the field of AM during their residency.This is the first nationwide study in France in this field. Although the response rate is below 50%, it exceeded our expectations. Our results are in line with previous studies showing that pediatric residents report a high interest in working with adolescents and yet their educational needs in AM are unmet. The limitations of this study include the self-selection bias and implicit limitations carried by the phrasing of the survey questions.There is a need to devise a better educational approach combining a broader proposal of AM block rotations together with a specific competency framework in adolescent health, since we know it improves the quality of health care delivered to adolescents. Moreover, training pediatricians in AM is a public health priority so as to comply with medical schools' principles of social accountability and address the priority health needs for an efficient, equitable, and sustainable health system. At a time when postgraduate reform is being made, the inclusion of an AM curriculum in the general pediatrician course is necessary.

Cystinuria is an inherited autosomal-recessive disorder of renal reabsorption of the dibasic amino acids. It is the cause of about 6% of all kidney stones observed in children. Cystine is relatively insoluble at the physiological pH of urine. Cystine stones are characteristic and frequent recurrences are observed. We report on 4 cases and describe the initial presentation (obstructive renal failure, urinary sepsis, familial screening) and the medical and surgical management. Medical management is mainly based on hyperhydration and urine alkalinization. Long-term therapy with sulfhydryl agents to prevent formation of renal stones seems to be effective but adverse side effects are frequent, requiring the withdrawal of treatment. Urological management has evolved from surgical stone removal to minimally invasive procedures (extracorporeal shock wave lithotripsy, ureteroscopy).

Adynamic bone disease, characterized by a low bone formation rate with normal or reduced amount of unmineralized osteoid, is supposed to be the consequence of aluminum intoxication in uremic patients. However, the emergence of adynamic bone disease has been recently reported in hemodialyzed patients in the total absence of aluminum overload. This study was aimed to assess whether such a histological pattern of adynamic bone disease was already present in uremic patients not yet on dialysis. Twenty-seven asymptomatic uremic patients (mean age +/- SD 43 +/- 10 years, mean creatinine clearance 19 +/- 3 ml/mm) were studied and bone biopsies were repeated in 16 of them after 18 +/- 10 months of treatment with oral calcium carbonate (1-3 g of elemental calcium/day) and calcidiol (21 +/- 14 micrograms/day). None of the patients received aluminum hydroxide, and the search for bone aluminum deposits was negative in all patients both before and after treatment. Two patients fulfilled the criteria of adynamic bone disease on their post-treatment biopsies. They originated from patients classified as having normal bone histology before treatment. Comparison with the other patients showed that they had comparable plasma C-terminal PTH but higher plasma creatinine than patients with normal bone histology and lower plasma C-terminal PTH than patients with osteitis fibrosa but comparable plasma creatinine. The plasma levels of 1,25(OH)2D reached values above normal after treatment in these two patients. It is suggested that adynamic bone disease not related to aluminum intoxication can develop in uremic patients independently of dialysis, and is favored by a relative hypoparathyroidism for the degree of renal failure, possibly induced by elevated plasma concentrations of calcitriol.

The aim of this study was to evaluate the change in ureteropelvic junction management, from surgical correction to observation of the hydronephrosis. We checked wether or not it was deleterious for kidney.We retrospectively reviewed 96 charts between 1988 and 1998. Initial ultrasonography, and voiding cystourethrogram were available for all cases. Intravenous urography and diuretic renography were studied when available. Minimal follow-up of patients was one year. Patients were divided into three groups: surgery right away, surgery after observation, and observation only.Later was the diagnosis, more significant were the hydronephrosis and impairment of renal function (p0.01). In group operated on right away (69 cases), drainage improved, hydronephrosis decreased, but renal function did not improve significantly (p = 0.37). Sixteen patients were operated on after observation without deleterious effect for kidney. Eleven patients were only observed: hydronephrosis progressively decreased. Initial radiological results were not different between the last two groups (p0.05), and were not predictive of their course.Initial non operative management of hydronephrosis was not dangerous for renal function. It is advisable to detect at the earliest all signs of obstruction, because surgery improves renal drainage but not renal function.

Comparing Power Doppler imaging versus technetium-dimercapto-succinic-acid (Tc-DMSA) scintigraphy in acute pyelonephritis of childhood.First episode of urinary tract infection, clinical and biological findings suggesting an upper lesion, absence of urological malformation or obstruction, absence of reflux (or vesico-ureteral reflux inferior to grade 3). Number of patients: 49, length of the study: 26 months (from November 95 to January 98).Tc99m-DMSA scintigraphy (after five days), B mode and Power Doppler imaging (on the day of admission or the following day). Systematic cystography (day 5 to day 30).In terms of positive diagnosis, scintigraphy was superior to Power Doppler, and the latter was superior to B mode ultrasonography. Sensitivity (scintigraphy being the gold standard) was equal for both B mode and Power DopplerUS imaging, but combined Power Doppler and B mode US provided improved results.Currently, the results with Power Doppler imaging are insufficient to replace DMSA scintigraphy. However, Power Doppler is a good complement to B mode US.

A retrospective survey concerning all patients ages 12-19 who had registered themselves at the admitting service of the paediatric emergency unit in the university hospital centre of Amiens was carried out in 1995. 2812 adolescents were received (18% of total admissions). The male/female sex-ratio was 1 to 3. The average age was 13.2 years old. Hospitalisations were more frequent in the spring and were predominantly on Mondays (17%). More than 2/3 of the adolescents were accompanied by their parents and 20% were referred by their doctors or by the SAMU (mobile emergency medical service). Two percent arrive alone. Traumatic pathology is the main reason for admission (1960 patients). Organic pathologies represent 24% of admissions and are essentially digestive pathologies (40%). "Suffering" adolescents (defined as those requiring an intervention with a psychotherapist as a matter of priority) only represent 6% of visits to the emergency unit, of which 2/3 correspond to suicide attempts. 24% of adolescents are hospitalised at the university hospital centre of Amiens within the paediatric services or specialised services (ENT, stomatology, etc.).

Recent studies have shown a high prevalence of calcium and vitamin D deficiencies in adolescents. The aim of this present study was to follow the changes in calcium status and 25 hydroxyvitamin D (25[OH]D) and parathyroid hormone (iPTH) levels during winter in preadolescents and adolescents from four university hospitals in northern France.Two groups of teenagers and adolescents (range: 10-15 years) were followed from October 1996 to June 1997. They were given either 100,000 IU of vitamin D (treated group n = 33) or a placebo (control group n = 35) in October, January and April. Serum calcium, phosphate, 25(OH)D and iPTH levels were measured at inclusion and every three months thereafter.At inclusion, plasma or serum 25(OH)D levels wereor = 10 ng/mL in 16 subjects and6 ng/mL in six. In control children, no significant change in 25(OH)D occurred during the study, while plasma or serum iPTH levels increased to 34 +/- 11 pg/mL. In the treated groups, 25(OH)D levels remained20 ng/mL in every subject; no hypercalcemia was observed; and the mean plasma or serum iPTH level was 25 +/- 14 pg/mL at the end of the study.Teenagers presented with a high prevalence of biological vitamin D deficiency at the end of summer. The increase of iPTH during winter in the unsupplemented group suggests that this has secondary consequences on their calcium homeostasis unless they are supplemented with vitamin D. We advocate a sufficient calcium supply and a 100,000 IU vitamin D supplement given two or three times during winter to preadolescents and adolescents living in northern France.

Cardiac involvement rarely occurs in classic hemolytic uremic syndrome (HUS); it is often fatal.The first patient, a 21-month-old boy, developed classic HUS with acute renal failure. Peritoneal dialysis was performed for 20 days. On the 10th day of dialysis, myocardial infarction occurred, probably related to coronary thrombus. The patient was given heparin and antibiotics because of an unexplained fever. The outcome was favorable despite antero-apical cardiac necrosis, and moderated chronic renal failure. The second patient, a 24-month-old girl, also showed a classic HUS, which required peritoneal dialysis for 10 days. Dilated cardiomyopathy with cardiac failure appeared on the 4th day of dialysis, not related to the volume overload and metabolic consequences of the acute renal failure, such as systemic hypertension or ineffective dialysis. On the 5th day of dialysis neurological involvement appeared. Neurological, cardiac and renal outcome was favorable. The third patient, a 25-month-old girl, developed a classical HUS, requiring peritoneal dialysis for 25 days. No cardiac insult appeared during the acute phase of the disease. After dialysis, the child had chronic renal failure (creatinine clearance: 15 mL/min/1.73 m2). Dilated cardiomyopathy appeared 3 months later, without definite etiology. The outcome was favorable with digoxin treatment.A cardiac involvement should also be searched for in the acute phase of HUS and several months later.

Despite low end dialysis serum phosphate levels (Pe) the control of phosphate retention remains often unsatisfactory in dialyzed patients. In order to assess the value of Pe in dialyzed children as an indicator of dialytic phosphate removal, we studied serum phosphate kinetics over the period of dialysis and post dialysis and compared these with urea kinetics. A multicenter study was conducted in the 21 French pediatric hemodialysis units and included 144 children under 15 years of age. Blood urea and phosphate concentrations were measured at the beginning, at 45 min later, at the end of dialysis, and 30 min post dialysis. At 60 min and at 360 min post dialysis measurements were made only for a subgroup of 12 children. From the serum levels, reduction ratios for urea (URR) and phosphate (PRR) and post dialysis rebound for urea (PDUR) and phosphate (PDPR) were calculated. URR (over the dialysis session, 72% +/- 9%) was higher than PRR (47% +/- 12%). Moreover, urea removal continued throughout the dialysis period, while most of the reduction in phosphate occurred in the initial dialysis period. Post dialysis urea rebound was limited to the 60th min post dialysis, whereas post dialysis phosphate rebound occurred until the 360th min post dialysis; by this time the serum phosphate levels had almost reached the predialysis levels. In summary, serum phosphate kinetics over dialysis and post dialysis periods in children appear to be misleading for the quantification of phosphate removal, i.e., phosphate clearance is a poor indicator of dialytic phosphate removal.

The kinetics of urea, creatinine and phosphate removal during dialysis were investigated in pediatric patients using a two-pool model taking into account fluid shifts and mass transfer between the two compartments. It is found that even urea must be described by a two-pool model since it presents a post dialysis rebound due to equilibration between the two compartments. Phosphate plasma concentration drops very sharply during the first hour of dialysis and rises rapidly during the rebound period. This pattern cannot be accounted for by the classical two-pool model with constant generation rate and mass transfer coefficients, but corresponds to a large time-dependent phosphate influx from the intracellular compartment in which phosphate is generated by biochemical reactions or liberated from the bones. This influx was calculated for four patients representing 8 dialysis sessions and was found to reach a plateau after 90 minutes of dialysis, dropping rapidly during the rebound period.

Cloning of the COL4A5 gene has now made possible prenatal testing for Alport syndrome with X-linked dominant inheritance. We interviewed 27 females and 24 males with Alport syndrome to evaluate their knowledge of the disease and its transmission, and their attitudes to prenatal testing. Twenty-two males and 8 females were on renal replacement therapy. In all cases transmission was compatible with X-linked disease. Only 59% of the interviewees (74% of women, 42% of men) knew that gender was the major determinant in progression of the disease. Knowledge of the mode of inheritance was adequate in only 25%, in both sexes. Seventy percent of the participants (78% of women, 63% of men) would use prenatal testing. Of the women in favor of prenatal diagnosis, 67% and 39% would terminate pregnancy in the case of an affected male or female fetus, respectively. Of the men in favor of prenatal diagnosis, 53% would consider termination of an affected fetus. In summary, a majority would use prenatal testing, but only one or two thirds of them wished to use selective abortion. As in other inherited disorders, there is a discrepancy between the demand for prenatal diagnosis and the decision to terminate pregnancy. Most of the participants who would terminate a pregnancy had, however, little knowledge of the clinical and genetic aspects of Alport syndrome on which to base such a decision. An important aspect of genetic counselling is to assist consultants in reaching a decision regarding future reproductive behaviour which is appropriate to their situation. This study underlines the need to improve education and counselling to assure appropriate use of prenatal testing.

In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.

Since Mai et al. found, with the intestinal lavage technique, that the same dose of elemental calcium given as acetate (Ca Ac) complexed in the gut of uremic patients twice as much phosphate as calcium carbonate (CaCO3) while inducing a rather low calcium absorption, we wanted to see if half the dose of elemental calcium given as Ca Ac could control, on medium term, the predialysis plasma phosphate as well as CaCO3 while inducing less frequent hypercalcemia. This was evaluated in a cross-over study of 3 periods of 10 weeks according to the sequence Ca Ac, CaCO3 and Ca Ac, in 12 compliant patients on chronic dialysis previously treated by CaCO3. Because of poor tolerance of Ca Ac during the first period, 4 patients were excluded and the results were assessed only on the 8 patients who completed the study. For half the doses of elemental calcium (620 +/- 250 mg versus 1,310 +/- 560 mg versus 710 +/- 200 mg/day), Ca Ac allowed the same control of predialytic hyperphosphatemia (1.67 +/- 0.34; 1.74 +/- 0.32; 1.75 +/- 0.38) with paradoxically comparable normal mean plasma calcium concentration (2.61 +/- 0.14; 2.56 +/- 0.13; 2.55 +/- 0.14 mmol/l). Plasma alkaline phosphatases and intact PTH concentrations remained also stable during the 3 periods. The frequency of hypercalcemia greater than 2.75 mmol/l (12; 9; 20%) and of hyperphosphatemia greater than 2 mmol/l (17; 22; 27%) were comparable with the 2 treatments. In conclusion, Ca Ac controls predialytic hyperphosphatemia as efficiently as CaCO3 for half the dose of elemental calcium without, however, decreasing the frequency of hypercalcemia.(ABSTRACT TRUNCATED AT 250 WORDS)

The purpose of this study is to evaluate the place of intravenous 1 alpha-hydroxyvitamin D3 (1 alpha-OH-D3) in the prevention of radiologically obvious hyperparathyroidism (HPT) in patients on maintenance dialysis while excluding aluminium phosphate binder and using a dialysate calcium concentration of 1.62 mmol which keeps the intradialytic calcium balance neutral. Therefore, 47 patients without subperiosteal resorption and previously treated by oral CaCO3 and if necessary Mg(OH)2 as phosphate binder while their dialysate calcium had a Ca level of 1.62 and a Mg level of 0.2 mmol/l were randomized into a control group of 24 who were maintained on the same treatment and an experimental group of 23. This group discontinued CaCO3 and received intravenous 1 alpha-OH-D3 after each dialysis at increasing doses up to 4 micrograms and increased Mg(OH)2 as their sole phosphate binder. When plasma Ca increased above 2.7 mmol/l, the dose of 1 alpha-OH-D3 was decreased. When plasma PO4 increased above 2 mmol/l, the dose of Mg(OH)2 was increased to the highest dose not inducing diarrhea, hypermagnesemia (less than 2 mmol/l) or hyperkalemia (less than 6 mmol/l). In case of persistent hyperphosphatemia, the dose of 1 alpha-OH-D3 was decreased. Since mean plasma alkaline phosphatase was normal, HPT was monitored on the plasma concentration of 1-84 PTH for which a previous histological study showed that frank osteitis fibrosa was present only when they were above 70 pg/ml, i.e. (about twice the upper limit of the normal value). Before the study, plasma PTH was below this limit in 16 patients of the CaCO3 group and in 14 patients of the 1 alpha-OH-D3 group. After 6 months, they remained below this limit in all patients except 2 of each group. Plasma PTH was initially above 70 pg/ml in 8 of the CaCO3 and did not change significantly throughout the study, 2 patients having at 6 months a PTH level below 70 pg/ml. In contrast with intravenous 1 alpha-OH-D3, all the 9 patients with initial frank HPT decreased their PTH levels after 2 months, the levels being below 70 pg/ml in 6 cases. However, because of hypercalcemia and/or of hyperphosphatemia in spite of a highest tolerable dose of Mg(OH)2, 1 alpha-OH-D3 doses had to be decreased down to 0.4 microgram per dialysis at the 6th month so that at 6 months 6 of 9 patients had their PTH levels above 70 pg/ml, a number comparable to that of patients treated with CaCO3 (6 of 8).(ABSTRACT TRUNCATED AT 400 WORDS)

Forty-two patients with calcium calculi were selected based on calciuria0.1 mmol/kg/d on an uncontrolled diet. To measure excretion of sodium, calcium, phosphates and hydroxyproline, a 24-hr urine sample was collected on the 4th day of a milk product-free diet, a fasting urine specimen was collected on the morning of the 5th day and another sample was taken 4 hr after the oral administration of calcium. On the 5th day, plasma levels of calcium, phosphates, intact parathyroid hormone (PTH), calcidiol and calcitriol were determined on an empty stomach and after administration of a calcium load. The results, compared to those of healthy subjects evaluated under the same conditions, enabled classification of the stone-formers as having dietary hypercalciuria (n = 18), when calciuria returned to normal on a low calcium diet, and idiopathic hypercalciuria (n = 24), when the urinary calcium level remained high. Patients with idiopathic hypercalciuria were then classified, according to Pak's criteria, as having absorptive hypercalciuria (n = 8), when the fasting calciuric levels was normal, renal hypercalciuria (n = 1), when fasting hypercalciuria with elevated circulating PTH was controlled by a calcium load, or undetermined hypercalciuria (n = 15) for those individuals with fasting hypercalciuria and normal plasma PTH levels. In addition, vertebral density was measured tomodensitometrically and expressed as a percentage of the normal as a function of sex and age based on a regression line calculated with the results of 239 normal subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable chromosomal defect. The present report of two brothers of healthy parents with negative familial history suggests an autosomal recessive mode of inheritance of this entity.

Juvenile adrenoleukodystrophy (ADL) is a peroxisomal, X-linked, consistently fatal condition for which no treatment is currently available. Detection of heterozygote females and antenatal diagnosis by determination of very long chain fatty acid levels are therefore mandatory. We report the case of a family with two affected first cousins but six unaffected maternal uncles. Plasma levels confirmed the usual X-linked pattern with transmission by the grandmother and ruled out the hypothesis of delayed adrenomyeloleukodystrophy in the grandfather with heterozygosis of all the daughters. Although all six sons are unaffected, two certainly heterozygote females have normal plasma very long chain fatty acid levels. Heterozygosis in these women was confirmed by family restriction fragment length polymorphism studies (TAQ1) using the St 14 probe whose reliability for the diagnosis of heterozygotes with normal plasma very long chain fatty acid levels has previously been documented.

To assess the prevalence of histologic bone disease in our center where Al(OH)3 intake is restricted, we reviewed 42 bone biopsies performed between 1975 and 1985 in patients dialyzed more than 29 months. Bone biopsies were performed systematically (2/3 of the cases) or because of a mild hypercalcemia (1/3 of the cases). Seventeen of these patients had been dialyzed before 1978 with softened water moderately contaminated by aluminum. Fifteen had always been dialyzed with reverse osmosis treated water and 10 had been exclusively treated by hemofiltration. The prevalence of osteitis fibrosa was 76%, that of osteomalacia null and that of adynamic bone disease 24% (but only 9.5% with positive Aluminon staining). When the 17 patients dialyzed with aluminum contaminated water before 1978 were excluded, only one patient among 25 had an aluminum adynamic bone disease (4%). This low prevalence can probably be explained by the restricted intake of Al(OH)3 thanks to the systematic administration of Ca CO3 and in a few cases of Mg (OH). The adynamic bone disease group has lower serum concentration of PTH and shorter duration on dialysis whereas the serum levels of calcium, phosphorus, magnesium and aluminum and daily dose of Ca CO3, Mg (OH)2 and Al(OH)3 do not differ. The frequency of the positivity of aluminum staining is not statistically different in the 2 groups. In 4 cases, adynamic bone disease without aluminum or iron intoxications is found, associated with a relative hypoparathyroidism. It is not explained by previous parathyroidectomy, diabetes or steroid therapy.1) Restriction of aluminum intake and dialysis with reverse osmosis treated water lead to a low prevalence of aluminum bone disease. 2) A new bone disease in uremia is described: the idiopathic adynamic bone disease associated with a relative hypoparathyroidism.

In order to compare hemofiltration (HF) and hemodialysis (HD) in connection with the risk of aluminum overload and renal osteodystrophy, double bone biopsies after double tetracycline labeling and a desferrioxamine test were performed in 12 patients on HF and 15 patients on HD. The aluminum concentration was low (less than 0.6 mumol/l) both in the dialysate and the substitution fluid. The duration of treatment (about 2 years) and the cumulative doses of Al(OH)3 and CaCO3 were comparable in the two groups. None of the patients was taking 1 alpha-OH-D. The aluminum balance during an HF run ranged from -22 to +1.8 mumol/l, the balance being positive only when the plasma aluminum was less than 0.5 mumol/l. Basal plasma aluminum and its increase induced by desferrioxamine were comparable in the two groups. Bone aluminum content was also comparable, but was about 10 times higher than in 7 nonuremic controls. Bone aluminum content and plasma aluminum increase after desferrioxamine were correlated to the Al(OH)3 cumulative dose. None of the patients had florid osteomalacia with increased osteoid thickness, and only 1 in each group had traces of stainable aluminum. The mineralization front was decreased in 8 of 12 HF and in 9 of 14 HD patients, so that no difference was observed between the means of the two groups. The predominant histological bone picture of the patients was osteitis fibrosa which was present in 10 of 12 HF and in 13 of 15 HD patients. Mean osteoclast count and active resorption surface were comparable in the two groups, but was increased (5-10 times the mean of the controls).(ABSTRACT TRUNCATED AT 250 WORDS)

Ten clinical episodes of acute pancreatitis (AP) occurred in six patients (mean age 10 years, range 3-15 years) with chronic renal failure (CRF) during a 9-year period (1977-1986). The underlying cause of CRF was vesicoureteral reflux (2); urethral valves (1); ureterohydronephrosis (1); nephronopthisis (1) and a haemolytic uraemic syndrome which occurred 12 years before (1). In all patients a diagnosis of AP was established both on clinical grounds and with a serum amylase level of greater than 600 IU/l. In 3 patients laparotomy was performed because of suspected appendicitis. All patients required exclusive parenteral feeding (mean duration 25 days) and 2 patients had a partial pancreatectomy. No patient developed pancreatic pseudocysts, 2 patients experienced one relapse (3 and 21 months later) and 1 patient had two relapses and died. Mean duration of follow up was 3 years (range 1-10 years). Possible aetiological factors were: choledochal cyst (1); parotitis without a rise in mumps antibodies (1); familial dyslipidaemia but without AP in other family members (1), and aluminium intoxication with hypercalcaemia and convulsive encephalopathy treated with valproic acid in 1 patient. Severe hyperparathyroidism with radiological signs was absent in all patients. Transplantation had been performed either before AP in 2 patients (1 and 3 years before AP) or had followed AP in 1 patient (7 years after) without occurrence or relapse of AP.

Since 1980, moderately large doses of oral calcium (80 +/- 35 mmol/day as CaCO3 +/- calcium polystyrene sulphonate), in association if necessary with Mg(OH)2 (2.5 +/- 1 g/day), with a reduction in the dialysate Mg concentrations from 0.75 to 0.375 mmol/24 h, have replaced A1(OH)3 as phosphate binders in our centre. A1(OH)3 was previously given to our haemodialysis patients in association with small doses of Ca CO3 (less than or equal to 3 g/day) and if necessary with 1 alpha OH vitamin D3. To compare the long-term efficacy of this new approach with the former one in the prevention of renal osteodystrophy and soft-tissue calcification, 32 current patients were selected on the basis of at least 24 months of treatment in our centre and availability of a yearly bone survey (profile of lumbar spine and anteroposterior view of the pelvis, shoulders and hands). A group of 30 patients treated before 1980 were then selected on the same criteria and matched for age, sex, and duration on dialysis. Linear calcifications of the anterior and posterior walls of the aorta in front of L2, L3, L4 and on the lateral walls of the iliac and femoral arteries were measured and the para-articular calcifications and subperiosteal resorptions of the hands evaluated. The initial extent and the subsequent increase of the ocular and para-articular calcification were comparable in the two groups. Plasma alkaline phosphatase was stable in the normal range in both groups, as was plasma concentration of calcium. Plasma phosphate was slightly elevated (1.7 mmol/l) but stable and comparable in the two groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Results are reported of therapy of 18 neonates in whom obstetrical ultrasound imaging had demonstrated uni- or bilateral pyelo-caliceal dilatation due to stenosis of pyelo-ureteral junction (18 children--2 hydronephroses). Neonatal biologic, ultrasound and urographic examinations confirmed presence and assessed importance of the hydronephrosis. As a function of findings therapy consisted of immediate operation (10 neonates), delayed surgery (5 cases) or surveillance (3 cases). Severe uni- or bilateral forms, classified stage III or IV were operated upon immediately, sometimes as emergencies. Less severe cases (stage III) were operated upon after 1 to 3 months, and the minor forms (stage II) were the object of simple surveillance. The operative technique used for treatment of the hydronephros was the Andersson-Hynes operation, anastomosis in 9 cases involving microsurgical procedures. Emphasis is placed on the serious nature of these neonatal forms, often bilateral or associated with contralateral uropathy. In utero shunts during the antenatal period are excluded, therapy being decided after birth. Based on their experience, the authors underline the reliability of early microsurgical pyeloplasty which appears to be the operation of choice in neonates at the present time.

The decrease of blood pressure and the increase of plasma renin activity (PRA) after oral administration of captopril was evaluated in 104 consecutive hypertensive out-patients in whom the morphology of the renal arteries and parenchyma was assessed thanks to an intravenous digitalized angiography. Twenty five of these patients were excluded because of a natriuresis less than 50 mmol/24 h or non discontinuation of their treatment; 50 of these patients were classified as essential hypertension, 12 had renovascular disease (10 unilateral stenosis 2 of which significant; 2 bilateral significant stenosis); 9 had unilateral small kidneys (4 significant). The significance was ascertained on the PRA in the renal veins and/or the decrease of hypertension after surgery. The decrease of blood pressure after captopril was not different between the various groups. The increase after captopril of PRA was higher in unilateral significant lesions. However the highest post captopril PRA value was found in the essential hypertension group so that renovascular diseases could not be screened by higher post captopril PRA values. However taking into account that these latter were decreasing with age, a better discrimination of significant unilateral disease was possible in the hypertensive patients above 40 years of age. Furthermore once the diagnosis of unilateral kidney disease is established by radiological investigation, the captopril test allows to predict unilateral hypersecretion of renin with a sensitivity of 100% and a specificity of 78%.the captopril test does not allow to screen the non selected hypertensive patients for an efficient radiological investigation by intravenous digitalized angiography but may help to select the patients with unilateral renal disease for the renal venous PRA evaluation.

After a protein load, the glomerular filtration increases to a maximum called maximal filtration capacity (MFC). The difference of this value with that observed in the fasting state defines the functional renal reserve (FRR). Fifty oral protein loads have been performed in 16 controls (13 adults and 3 children) and 31 patients with kidney disease or hypertension (22 adults, 9 children, 3 tests being performed twice). The load consisted in the adults of 80 g of various proteins. In the children the load consisted in the 100% of the protein intake recommended of the whole day. The urinary samples were made hourly during the 5 hours following the beginning of the meal. The MFC was not always observed during the 2 hours following the end of the meal. However the mean of the clearances measured during these 2 hours allowed an acceptable evaluation of the FRR in 42 out of 50 cases and had the advantage to reduce the errors linked to incomplete bladder voiding. In the adult controls the mean of hourly determined MFC is 156 +/- 27 ml/min, the mean of the clearances measured on the 2 hours following the meal is 136 +/- 21 ml/min and the fasting clearance 96 +/- 22 ml/min. The FRR is null in all patients with a nephropathy with a fasting clearance below 40 ml/min. It is modest or null in patients with acquired or congenital solitary kidney. Three out of five patients with proteinuria have MFC and FRR higher than the mean of the patients with comparable fasting clearances but without proteinuria suggesting that proteinuria is associated with a hyperfiltration state.

An atrophy of villi without digestive troubles is found in a 3 1/2 years old boy with a typical Duhring's disease. This observation proves the interest to research an enteropathy in case of dermatitis herpetiformis, and on the other hand the gluten free diet's efficacity on the cutaneous lesions. The authors consider cutaneous lesions's pathogeny and the antigenic relations between these two diseases.

Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.

Benign tumours of the urinary bladder are very rare in children. A new case of cavernous haemangioma of the bladder is reported in a five year old boy presenting with macroscopic haematuria. This tumour is a hamartoma which usually presents with painless haematuria. In about 30% of cases, the bladder tumour is associated with angiomatous lesions in other parts of the body. The diagnosis may be suspected on intravenous urography or ultrasound examination, but it is generally made at cystoscopy. Biopsy and transurethral resection must be avoided because of the risks of haemorrhage. Partial cystectomy appears to be the most effective method of treatment.

Bilateral adrenal haemorrhage was diagnosed in 3 newborns. Clinical, biological and hormonal features were different in each case: abdominal mass in the first case; hyponatremic dehydration for the two others. This hyponatremic dehydration was related to temporary acute adrenal insufficiency for one newborn while association with medullary necrosis did not allow to assert hypoadrenalism for the other. These three cases emphasize: 1) variability of presentation at onset; 2) heterogeneousness of salt loose syndrome; 3) interest of systematic renal and adrenal exploration in adrenal haemorrhage.

A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic studies is of interest among the patients with midline defects and/or hypopituitarism.

In dialysis centers using reverse osmosis-treated water but not restricting A1(OH)3 administration, a high prevalence of histological aluminum bone disease has been reported. To assess whether this is also the case in our center where A1(OH)3 intake has always been restricted and even completely given up after 1980 thanks to high doses of CaCO3, we reviewed 42 bone biopsies performed between 1975 and 1985 in patients dialyzed for a mean duration of 56 months. Seventeen of these patients had been dialyzed before 1978 with softened water moderately contamined by aluminum, 15 had always been dialyzed with reverse osmosis-treated water and 10 had been exclusively treated by hemofiltration. The prevalence of aluminum bone disease in the whole population was 9.5% (4 patients) and consisted only of adynamic bone disease, osteomalacia being totally absent. When the patients dialyzed with aluminum-contaminated water were excluded as well as 1 diabetic patient who had taken A1(OH)3 for 1.5 years the prevalence of aluminum bone disease was null in this population. When the whole population is considered the prevalence of the other types of bone disease was 76% for osteitis fibrosa and 14.5% for a non-aluminic adynamic bone disease (6 cases). These latter cases differed from the osteitis fibrosa group only by a relative hypoparathyroidism not explained by higher plasma concentrations and higher oral cumulative doses of calcium, magnesium and aluminum or by lower plasma concentrations of phosphate and bicarbonate. None had previous parathyroidectomy, one had an unsuccessful transplantation and one was diabetic. Iron overload was excluded by negative Perls staining.(ABSTRACT TRUNCATED AT 250 WORDS)

In a previous study we showed that 1 alpha OH vitamin D3 [1 alpha (OH)3] given to 16 hemodialyzed patients taking Al(OH)3 at a constant dose increased their plasma concentrations of aluminum [Demontis et al. 1986]. In order to choose between 2 possible mechanisms explaining this increase (increased intestinal absorption or decreased tissue storage of aluminum), we gave, in the present study, 1 alpha (OH)3 the same dose (6 micrograms per week) for the same period (4 weeks) to 15 stable hemodialyzed patients after their Al(OH)3 had been discontinued for 6 weeks. Under Al(OH)3 treatment they had a mean plasma aluminum (2.33 +/- 2.36 mumol/l) which was not significantly different from that of the patients in our former study (1.23 +/- 0.25 mumol/l). After Al(OH)3 discontinuation, plasma aluminum (measured by inductively coupled plasma emission spectrometry) decreased significantly as early as the 2nd week of the control period (1.39 mumol/l). The decrease was maintained at a plateau throughout the 5 weeks of the control period (1.38 mumol/l), the 4 weeks of 1 alpha OH vitamin (vit) D3 administration (1.40 mumol/l) and the 8 weeks of the post 1 alpha (OH)3 period (1.22 mumol/l). Plasma calcium and phosphate concentrations increased significantly with 1 alpha (OH)3 and decreased thereafter whereas plasma PTH concentrations decreased during 1 alpha (OH)2 D3 and increased after its discontinuation suggesting biological activity of 1 alpha (OH)3. Since 1 alpha (OH)3 increases plasma aluminum in hemodialyzed patients only when they are simultaneously taking Al(OH)3, it is suggested that this increase is explained by an increase of intestinal absorption of aluminum and not by a tissue redistribution of aluminum.

We report seven cases of acute renal failure (ARF) treated by continuous ambulatory peritoneal dialysis (CAPD). ARF was caused by hemolytic uremic syndrome in six patients and acute fetal distress in one neonate. Mean age was 28 months (range 6 days-6 years). A flexible Tenckhoff catheter was inserted surgically under brief (10 minutes) general anesthesia in all patients. During the first 24 hours, in order to avoid clogging of the catheter, exchanges were done every 45 minutes with 20 ml/kg dialysate initially, gradually increased to 40-50 ml/kg. Thereafter, 5 to 8 exchanges were done every day (mean duration 9 days, range 4-21) until creatinine clearance reached 15 ml/mn/1.73 m2. No case of peritonitis or leakage was recorded. In two patients, migration of the straight catheter caused flow obstruction. None of the crook-shaped catheters migrated. Because dialysis was continuous and fluid balance could be controlled by using a hypertonic dialysate if called for, optimal protein (1-1.5 g/kg/d) and energy intake were possible. This intake was ensured mainly by continuous enteral nutrition. Improved patient comfort (no immobilization, no repeated punctures) and staff comfort (technical simplicity, independence from a cycler) are further non-negligeable advantages of CAPD.

Reactive arthritis is arthritis in which, although the nature of the responsible infection is known or suspected upon serological grounds, attempts at recovering the pathogen from the synovial fluid have failed. One of the main pathogenetic problems is the multiplicity of etiologic agents. Some are exogenous and may be related to the articular tropism of certain microorganisms, to immunologic depression due to an antecedent or coincident infection, and to successive reinfections by the same pathogen or by others which may promote an exacerbation of the disease. Others are endogenous and attention should be given to the local or systemic presence of an antigen as well as, in some instances, to the persistence of residual forms of infecting agents, which are more readily demonstrated with current bacteriological and serological methods. Although reactive arthritis is to be distinguished from septic arthritis, it can no longer be clearly differentiated from the classical post-infectious rheumatism. Once it has been produced, the antigenic stimulation is responsible for an immunologic response which tends to check systemic extension but may also produce tissue damage in the host. Some patients have circulating immune complexes which may bind to the joint, thereby damaging it. In other patients, particularly those who are HLA B27 positive, host-pathogen cross-reactions are demonstrated. Actually, the most frequent pathogenetic sequence seems to be a combination of two or more of these mechanisms, as there are reasons to believe that presence of the pathogen in situ is not required for the persistence of the inflammatory process. Reactive arthritis was first reported in adults following either sexually transmitted urethritis due to chlamydiae, mycoplasma or gonococci, or hepatitis B or an intestinal infection due to Yersinia, Campylobacter, Shigella, Klebsiella or Salmonella. Later, it was described in pediatric patients, particularly in Scandinavia where, for genetic reasons, the HLA B27 group is prevailing. Reactive arthritis seems less frequent in caucasian ethnic groups and above all in Latin Americans among whom HLA B27 carriers are more uncommon; however, it must be pointed out that they have not been as extensively studied and that other etiologic factors may still remain to be discovered. The course and etiology of the different forms of arthritis share certain characteristics which have been determined through a better knowledge of these conditions: onset occurs one or several weeks after a respiratory, urinary or, most often in children, digestive infection. This episode is unremarkable or latent and often overlooked.(ABSTRACT TRUNCATED AT 400 WORDS)

Plasma testosterone was longitudinally studied during the first months of life in 7 XY infants with male pseudohermaphroditism. In two, the physiological postnatal rise of plasma testosterone was absent or blunted. A combined adrenal and testicular enzymatic defect was demonstrated in these two boys. In 5, a normal postnatal testosterone rise demonstrated a normal Leydig cell function. The longitudinal study of the physiologic postnatal rise of testosterone may be useful to distinguish secretory defects from responsiveness abnormalities thus improving the choice of gender in male pseudohermaphrodites.