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Introduction: Treatment with orally administered ibandronate is an effective way to increase bone mineral density (BMD) and reduce fracture rate in post-menopausal women and in men with osteoporosis. There are only very few reports concerning ibandronate therapy in children and adolescents, and in patients with osteogenesis imperfecta (OI), as bisphosphonates are not registered for therapeutic use in pediatrics. Case Report: We present three patients with OI, where once-monthly oral ibandronate increased spinal BMD after two and four years, respectively, of therapy without any occurrence of new fractures and no adverse reactions. Somatic growth was not affected by the ibandronate treatment. Conclusion: Once-monthly oral ibandronate increased BMD and most probably improved bone quality in young patients with OI.

Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139, is found mostly in association with ciliopathies in humans. The role of this protein in podocyte cytoskeleton stability was confirmed later and the mutated TTC21B also may be associated with proteinuric diseases, such as nephrotic syndrome. Our patient manifested as an infant with brachydactyly, nephrotic-range proteinuria, and renal tubular acidosis, and a kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). Multiple phalangeal cone-shaped epiphyses of the hand were seen on X-ray. Next-generation sequencing revealed the well-described p.Pro209Leu heterozygous variant and a novel heterozygous p.Cys14Arg variant in the TTC21B gene. Our finding confirmed that the causative variants in the TTC21B gene may contribute to a spectrum of clinical features, such as glomerular proteinuric disease with tubulointerstitial involvement and skeletal abnormalities.

A two-year-old girl with two weeks of abdominal pain, vomiting, and food refusal, ten months after percutaneous endoscopic gastrostomy insertion because of inadequate peroral intake, was admitted to a tertiary centre hospital. On admission, the extracorporeal part of the gastrostomy was much shortened. X-ray examination revealed migration of the end of the gastrostomy tube with a left-shifted course of the tube through the duodenum. Gastroscopy and subsequently laparotomy were performed. A longitudinal pressure necrosis was identified under the tube, with two perforations in the duodenojejunal region. Ten centimeters of that duodenojejunal region were resected, and end-to-end anastomosis was made. The migration of the gastrostomy was probably caused by insufficient care by the parents. Pathophysiologically, the tube caused the pressure necrosis in the duodenojejunal area; this was supported by histology. This is a hitherto undescribed complication of a percutaneous endoscopic gastrostomy, showing that migration of the gastrostomy to the deeper part of the small bowel can lead to pressure necrosis, a potentially life-threatening condition in children which cannot be treated without invasive procedures.

Purpose: To evaluate vitamin D status in mothers and their very low birth weight infants (VLBW) at birth (umbilical cord blood) and at discharge with currently recommended supplementation of vitami...

The primary objective of this study was to compare clinical outcomes of very low birth weight (VLBW) infants with 25-hydroxy vitamin D [25(OH)D] levels25 nmol/l in umbilical cord blood versus VLBW infants with 25(OH)D levels in cord blood25 nmol/l. The secondary objective was to evaluate umbilical cord vitamin D as a risk factor for respiratory distress syndrome (RDS) in preterm infants.We examined 25(OH)D levels in umbilical cord blood and in infants' serum at discharge from the neonatal intensive care unit. We evaluated the associations between severe vitamin D deficiency and various laboratory findings and clinical outcomes.Eighty one infants with birth weight less than 1500 g met the entry criteria for this study and were divided to groups according to umbilical cord blood vitamin D [Group A: 25(OH)In our prospective cohort study, we found no significant association between vitamin D status and selected clinical outcomes when using a cut-off of 25 nmol/l (severe vitamin D deficiency) in preterm infants.

Background: Respiratory syncytial virus (RSV) is the most common cause of severe lower respiratory tract infection, with a high global health burden. There are no effective treatments available. ALX- 0171 is a novel trivalent Nanobody with antiviral properties against RSV. We aimed to assess the safety and antiviral activity of nebulised ALX- 0171 in children admitted to hospital with RSV lower respiratory tract infection. Methods: This double-blind, randomised, placebo- controlled, phase 2b trial was done in 50 hospital paediatric departments across 16 countries. Previously healthy children aged between 28 days to younger than 24 months who were admitted to hospital with RSV acute severe lower respiratory tract infection were randomly assigned in three sequential safety cohorts (3:1) to receive nebulised ALX-0171 (cohort 1 received 3 mg/kg, cohort 2 received 6 mg/kg, and cohort 3 received 9 mg/kg) or placebo once daily for 3 days using web- based randomisation in the sequential safety part (first block size 12, subsequently four). In a parallel part of the study, participants (cohort 4) were randomly assigned (parallel 1:1:1:1) to receive nebulised ALX-0171 3 mg/kg, 6 mg/kg, 9 mg/kg, or placebo (blocks of eight by restricted randomisation). Study drug masking was by two consecutive nebulisations (each either ALX-0171 or placebo) depending on assigned treatment group. The primary outcome was to evaluate time for the RSV viral load to drop to below quantifiable limit, measured by plaque assay on mid-turbinate nasal swabs. Safety, clinical efficacy, pharmacokinetics, viral load by RT-qPCR, and immunogenicity were secondary outcomes. Analysis, including of the primary outcome, was by modified intention to treat (participants receiving at least one dose of study drug as assigned), and safety was assessed in all children who received at least one administration of study drug, as treated. This trial is registered with EudraCT, 2016-001651-49. Findings: Between Jan 10, 2017, and April 26, 2018, 175 children (median age 4·8 months [IQR 2·0-10·8]), received at least one dose of study drug (45 received 3 mg/kg of ALX-0171, 43 received 6 mg/kg of ALX-0171, 45 received 9 mg/kg of ALX- 0171, and 42 received placebo ; the modified intention-to-treat population) commencing at a mean 3·3 days (SD 1·1) from symptom onset. Median time for the viral load to drop to below quantifiable limit on plaque assay was significantly faster for the 3 mg/kg group (median 14·2 h [IQR 5·0-28·0]), 6 mg/kg group (5·1 h [4·7- 28·5]), and 9 mg/kg group (5·1 h [4·6-5·9]) than the placebo group (46·1 h [25·2-116·7] ; hazard ratio [HR] all ALX-0171 groups vs placebo 2·6 [1·7-3·9] ; p92% for 4 h in room air and adequate oral feeding) in ALX-0171 groups and the placebo group (median 43·8 h [IQR 21·7-68·5] vs 47·9 h [22·5-76·4] ; HR 1·1 [95% CI 0·8-1·6]) or change in the global severity score from baseline to 5 h post-dose on day 2 (-4 [IQR -6 to -2] vs -4 [-6 to -1] ; difference in least- squares mean -0·45 [95% CI -1·39 to 0·49]). Serum concentrations of ALX-0171 on day 2 exceeded the concentration estimated to give full RSV neutralisation in the lung at 6 mg/kg and 9 mg/kg doses. Treatment-emergent antidrug antibodies were detected at day 14 in 46 (34%) of 135 patients who received ALX-0171 and ten (26%) of 39 patients who received placebo. Serious adverse events were reported in five (13%) of 40 children in the placebo group and ten (7%) of 135 children in all ALX-0171 groups, leading to study drug discontinuation in three children (two in the 3 mg/kg group and one in the 6 mg/kg group). 13 of 15 serious adverse events (three of four in the 3 mg/kg group, two of three in the 6 mg/kg group, three of three in the 9 mg/kg group, and five of five in the placebo group) were related to worsening respiratory status, and none were considered to be related to the study drug. Interpretation: Antivirals against RSV might be unable to improve clinical course once RSV lower respiratory tract infection is established. Future studies of RSV antivirals should focus on earlier intervention and more precise measurement of objective outcomes before the onset of significant lower respiratory tract inflammation.

Purpose: The aim of this pilot study was to estimate physiological parathyroid hormone (PTH) levels and their relationship with bone metabolism parameters in otherwise healthy preterm newborns with...

Chronicke onemocněni ledvin (CHOL) představuje významnou zatěž pro zdravi dětske populace. Nejcastějsimi přicinami CHOLu děti jsou vrozene vady uropoetickeho traktu, dale chronicke glomerulonefritidy a cysticke choroby ledvin. Spravna vcasnadiagnostika CHOL a adekvatni lecba komplikaci jsou hlavnimi ukoly osetřujiciho lekaře. V tomto přehledovem clanku shrnujemesoucasný pohled na problematiku CHOL u děti.

Nefrotický syndrom je způsoben zvýsenou propustnosti glomerularni filtracni bariery s nasledným rozvojem masivni proteinurie, hypoproteinemiea otoků. Nejcastějsi formou u děti je idiopatický nefrotický syndrom, který se dale klasifikuje dle odpovědi na lecbu kortikosteroidy.Dalsi imunosupresiva (levamizol, cyklofosfamid, cyklosporin A, tacrolimus, mykofenolat mofetil) a monoklonalni protilatky (rituximab, ofatumumab)se použivaji jako kortikosteroid setřici latky v terapii děti s komplikovaným průběhem onemocněni. Pokroky v molekularni geneticea porozuměni patofyziologii podocytů změnilo pohled na diagnostiku i lecbu geneticky podminěných forem nefrotickeho syndromu.

Background Cyclophosphamide (CYC) has been a mainstay in the treatment of severe childhood primary systemic vasculitis. Although major organ involvement is rare in IgA vasculitis (IgAV), CYC is among therapeutic options in moderate and severe IgAV nephritis.(1) No specific recommendations are available for cerebral vasculitis of IgAV. Objectives To describe disease course and treatment response in 2 patients with severe IgAV with CNS and renal involvement. Methods Case reports with disease assessments using Paediatric Vasculitis Activity Score (PVAS).(2) Results Both children were Caucasian boys with unremarkable previous history aged 4 (Patient 1) and 8 (Patient 2) years. In both cases the initial typical presentation included purpura and abdominal pain in both, arthritis in Patient 1 and haematuria in Patient 2. After 2 weeks of prednisone therapy for severe gastrointestinal (GIT) symptoms Patient 1 was admitted for right-sided weakness and facial palsy. His brain MRI revealed an ischaemic lesion. His PVAS reached 21/63 for skin, abdominal, renal (haematuria) and CNS systems. When Patient 2 was admitted for abdominal symptoms he developed a focal epileptic paroxysm. His brain MRI was compatible with cerebral vasculitis. His nephritic-nephrotic syndrome prompted renal biopsy showing mesangioproliferative nephritis with IgA deposits. His PVAS was 27/63 for skin, abdominal, renal (hypertension, haematuria, proteinuria) and CNS systems. Both patients received 3 doses of intravenous methylprednisolone 30 mg/kg followed by oral prednisone 1 mg/kg with subsequent tapering and 3 doses of CYC 500mg/m2(monthly i.v.). At follow-up 3 months after the 1st CYC dose both patients fully recovered neurologically. Patient 2 was on prednisone (0.2 mg/kg) and ACE inhibitor and his urine was negative for the first time, PVAS=0. Patient 1 had been developing significant proteinuria during prednisone withdrawal and his PVAS counted 10/63 for renal disease. Prednisone was re-instituted and ACE inhibitor added while renal biopsy has been pending. Conclusion In both cases therapy with corticosteroids and CYC led to the full recovery of CNS disease but did not prevent progression of nephritis in Patient 1. Response of Patient 2 nephritis to CYC appeared satisfactory at 3 months visit but would require confirmation after full prednisone withdrawal. Although generally benign, when IgAV presents with major organ involvement its treatment is challenging. Further research is needed in order to gather better evidence to support treatment recommendations. References [1] ozen S, et al. Europen consensus-based recommendations for diagnosis and treatment of IgA vasculitis – the SHARE initiative. Rheumatology (Oxford) 2019, in print [2] Doležalova P, et al. Disease activity assessment in childhood vasculitis: development and preliminary validation of the Paediatric Vasculitis Activity Score (PVAS). Ann Rheum Dis 2013 72(10):1628-33 Disclosure of Interests None declared

Dr. Pinheiro et al. produziram um excelente panorama sobre a sindrome nefrite tubulo-intersticial e uveite (sindrome TINU) em um paciente adulto, em que a uveite precedeu a nefrite (1). Como foi claramente destacado, a sindrome TINU pode surgir na infância ou na idade adulta durante o decurso de manifestacoes agudas de nefrite tubulo-intersticial. Gostariamos de apresentar nossa observacao de sindrome TINU em um adolescente com inflamacao renal cronica. Um rapaz de 14 anos tratado por uveite anterior aguda foi internado [...]

Children with nephrotic syndrome are prone to hypercoagulation disorders and thromboembolism. Of these patients, intracardiac thrombus is the most serious and life-threatening complication, which is detectable by echocardiography and can be successfully treated with plasminogen activator. This review deals with the very rare occurrence of intracardiac thrombi in children with nephrotic syndrome.

Kutilek S, Skalova S, Vethamuthu J, Geier P, Feber J. Transient hyperphosphatasemia in pediatric renal transplant patients – Is there a need for concern and when? Pediatr Transplantation 2012: 16: E5–E9. © 2010 John Wiley & Sons A/S. Abstract: TH of infancy and early childhood is characterized by transiently increased S-ALP, predominantly its bone or liver isoforms. There are neither signs of metabolic bone disease or hepatopathy corresponding to the increased S-ALP, nor a common underlying/triggering disease. TH may also occur in children post-renal Tx, which may raise significant concerns and anxiety. We describe four patients aged 2.8–7 yr in whom the TH occurred at 11–34 (median = 28) months after Tx and lasted from 40 to 105 (median = 63) days. No obvious cause/trigger of TH could be found; the clinical status and bone turnover were not altered. In cases of TH post-Tx, we recommend the evaluation of basic biochemical indices and wrist X-ray. If these results are normal, TH is most likely the diagnosis and the S-ALP can be monitored over the next three months without further testing. In patients with persisting TH for more than three months and/or in children with pre-existing or suspected metabolic bone disease, further evaluation may be indicated. In conclusion, TH is a benign disorder in patients post-Tx. Detailed investigation including bone biopsy is only indicated in patients with persisting TH.

This report analyses data on 177 renal biopsies (RB) performed in 174 children in the East Bohemian region throughout 1997–2008. The primary aim was to evaluate the diagnostic benefit of the procedure, the secondary aim was to assess the safety of RB and prevalence of clinical complications. The patients’ mean age at the time of RB was 12.77 ± 4.17 years; range 1 to 19 years; male to female ratio 1.17:1. Haematuria was the most common indication for RB. All RBs were performed by a single consultant nephrologist. 27 biopsies in 27 patients (15.3 %) in 1997 were performed under X-ray control, the remaining 150 RB (84.7 %) under ultrasound guidance. The mean annual number of RBs performed in 1997–2001 was significantly higher than in the 2003–2008 period (21.6±5.5 versus 9.9±1.2; p=0.0003). All samples were diagnostic. The mean number of glomeruli was 23.5±11.4 (range 4–55) per sample. The RB resulted in information yielding a definite diagnosis and/or prognosis in 173 children (99.4 %). The most frequent diagnoses were IgA nephropathy (n=41; 23.5 %), mesangioproliferative glomerulonephritis (n=31; 17.8 %) and thin basement membrane glomerulopathy (n=22; 12.6 %). No major complications were encountered and only minor complications occurred in 43 cases (24.2 %), not requiring medical intervention. In conclusion, the present practice of RB in children is safe, with high clinical benefit.

The kidney function can be assessed by a number of methods. The urinary excretion of enzymes, in particular N-acetyl-β-D-glucosaminidase (NAG), is considered a relatively simple, cheap, fast and non-invasive method in the detection and follow-up of renal tubular function under various conditions. The determination of urinary NAG provides a very sensitive and reliable indicator of renal damage, such as injury or dysfunction due to diabetes mellitus, nephrotic syndrome, inflammation, vesicoureteral reflux, urinary tract infection, hypercalciuria, urolithiasis, nephrocalcinosis, perinatal asphyxia, hypoxia, hypertension, heavy metals poisoning, treatment with aminoglycosides, valproate, or other nephrotoxic drugs. This paper gives an overview of the current use of urinary NAG in the detection of renal injury.

Podocin mutations (NPHS2gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients withNPHS2gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of twoNPHS2gene mutations (p.R138Q and p.V290M) was diagnosed, methylprednisolone was discontinued and patient underwent ten plasmapheresis procedures. This resulted in clinical improvement (proteinuria 3000 mg/24 h, S-cholesterol 6 mmol/L, albumin 30g/L) lasting for three years. In conclusion, plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation, before renal replacement therapy is initiated.

5-aminosalicylate compounds (mesalazine, sulfasalazine) are widely used in therapy of inflammatory bowel diseases. Mesalazine-induced interstitial nephritis is a rare complication; however, the morbidity in an affected individual is high. Regular renal screening in patients treated with 5-aminosalicylate compounds is important. A 15-year-old boy with treated idiopathic proctocolitis, consequent mesalazine-induced nephritis, and a favorable response to corticotherapy is presented.

Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable cause. The excretion of urinary N-acetyl-beta-D-glucosaminidase (U-NAG), a marker of proximal tubular damage, has been previously reported as either increased or normal in children with IH. We evaluated U-NAG in 20 children (13 boys and 7 girls, mean age 10.3 years ± 5.7 SD) with IH (urinary calcium excretion above 0.1 mmol/kg/24 hours, with no detectable cause) and with otherwise normal renal function tests. Ultrasound examination revealed urolithiasis (n = 4) and nephrocalcinosis (n = 1). The U-NAG values were evaluated in the spot urine collected from the second morning void and calculated as the urinary NAG/creatinine ratio (U-NAG/Cr) and expressed in nkat/mmol. The 24-hour urinary calcium excretion (U-Ca/24h) was assessed in a urinary sample from 24-hour collected urine and calculated in mmol/kg. The obtained results of U-Ca/24h and U-NAG/Cr were expressed as Z-scores. When compared to the reference data, the U-Ca/24h and U-NAG/Cr were significantly higher (p=0.0004 and p=0.006, respectively). There was no correlation between the U-NAG/Cr and U-Ca/24h (r = 0.18, p = 0.20). The U-NAG/Cr values were significantly higher in the 5 patients with urolithiasis/nephrocalcinosis, whether compared to the rest of the group (p=0.02), or to the reference data (p=0.01). The U-NAG/Cr activity was higher in 15 children without urolithiasis/nephrocalcinosis when compared to reference data (p < 0.01). There was no difference in U-Ca/24h between the children with and without urolithiasis/nephrocalcinosis (p = 0.58). These findings suggest that tubular impairment, as reflected by U-NAG/Cr, might occur in children with IH, especially in patients with urolithiasis/nephrocalcinosis. There doesn’t seem to be a direct relationship between the U-NAG/Cr activity and the degree of calcium leakage.

Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia. Manifestations of GS are rarely apparent before the age of five, and the syndrome is usually diagnosed during adolescence or adulthood. Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation.We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive. Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. Genetic studies confirmed the diagnosis of GS and three different mutations of in SLC12A3 gene were detected. Two mutations (c.2576TC and c.2929CTy) were considered as causal ones, with the patient´s parents being the heterozygous carriers. Oral potassium supplementation resulted in normalisation of the hypokalemia and psychomotor improvement.We report a rare case of psychomotor retardation occurring at an early age in genetically confirmed GS. In spite of being a rare disorder, GS has to be considered in children with developmental delay and muscle weakness. With adequate treatment, GS patients have an excellent prognosis.

Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186cgt;t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.nbsp

Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ES and the first study of autoimmune disease in SIOD. ispartof: Pediatric Rheumatology vol:9 issue:1 pages:27-30 ispartof: location:England status: published

Hypercalciuria is defined as urinary calcium excretion ≥0.1 mmol/kg/24 h, and can be a result of various disease states. The most frequent clinical signs of hypercalciuria include hematuria, abdominal pain, urolithiasis, nephrocalcinosis, dysuria, enuresis, and urinary tract infection. 3 case reports of children with hypercalciuria of different origin are presented, with final diagnoses of (1)idiopathic hypercalciuria, (2)familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and (3)metabolic bone disease of prematurity, respectively. Assessment of hypercalciuria is essential in all children with urolithiasis and nephrocalcinosis, or demineralization of bone. It should be also a part of differential diagnostic procedure in hematuria, recurrent abdominal pain, urinary tract infection and enuresis in childhood.

Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C1C2 variant found in some groups of patients was not significant.

SUMMARY: Background: Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable causes. Patients with IH have a higher prevalence of osteoporosis. Defective reabsorption of calcium by the renal tubule is considered a likely mechanism of IH. N-acetyl-beta- d-glucosaminidase (NAG) is a lysosomal enzyme that is a very sensitive marker of renal tubular impairment. Methods: Fifteen patients (nine boys and six girls, mean age 12.4 ± 4.0 years) with IH (urinary calcium excretion >0.1 mmol/kg per 24 h) had their bodyweight, height, body mass index (BMI), urinary NAG/creatinine ratio (U-NAG/Cr) and 24-h urinary calcium excretion (U-Ca/24 h) assessed. L1–L4 bone mineral density (BMD) was measured by dual energy X-ray absorptiometry and volumetric BMD (BMDvol) was calculated. The obtained results were expressed as Z-scores. Results: The values of basic anthropometric parameters did not differ significantly from the values of the reference population and there was a tendency to short stature, which did not reach statistical significance (P = 0.08). The values of calciuria and U-NAG/Cr were significantly higher while BMD was significantly lower when compared to the reference values (P

The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of 1) hypoglycosylation findings, 2) distribution of protein variants, 3) misguiding rare Tf variants found in our set, and 4) association of some phenotypes with various diseases.

Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician. We present a three year old boy with genetically confirmed Gitelman syndrome where THI was detected accidentally during periodic check-up. S-ALP peaked to 41.8 µkat/L, there were neither laboratory or clinical signs of liver or bone disease; the S-ALP dropped to normal value of 4 µkat/L 60 days later. Therefore, the patient fulfilled the criteria for THI. There were no further increases in S-ALP.Resumo A hiperfosfatasemia transitória benigna da infância (HTBI) é caracterizada por elevação transitória da atividade da fosfatase alcalina sérica (S-ALP), predominantemente em sua isoforma óssea ou hepática, em crianças com menos de cinco anos de idade. Não há sinais de patologia óssea metabólica ou hepatopatia correspondentes ao aumento da S-ALP. A HTBI é um distúrbio benigno, mais laboratorial que clínico, normalmente detectado acidentalmente em crianças saudáveis e acometidas por alguma patologia. Quando encontrada em crianças com doença crônica óssea, hepática ou renal, maiores preocupações são justificadas. O presente relato descreve o caso de um menino de três anos de idade com síndrome de Gitelman geneticamente confirmada, em que a HTBI foi detectada acidentalmente durante um exame periódico. A S-ALP atingiu o pico de 41,8 µkat/L, sem sinais laboratoriais ou clínicos de doença hepática ou óssea. O valor de S-ALP caiu para o nível normal de 4 µkat/L 60 dias mais tarde. Portanto, o paciente satisfazia os critérios para HTBI. Não houve outros aumentos na S-ALP.

OBJECTIVE: Hydronephrosis leads to deterioration of renal function. As urinary N-acetyl-beta-D-glucosaminidase (U-NAG) activity is considered a sensitive marker of renal tubular impairment, our aim was to measure U-NAG in children with hydronephrosis and to look for a relationship among selected clinical parameters. MATERIALS AND METHODS: We studied 31 children (22 boys and 9 girls, mean age 2.3 ± 2.5 years) with hydronephrosis grade 1-4 that had U-NAG/creatinine ratio (U-NAG/Cr) measured. RESULTS: The U-NAG/Cr was significantly higher in patients with hydronephrosis compared to reference data (p = 0.002). There was no difference in U-NAG/Cr between children with unilateral and bilateral hydronephrosis (p = 0.51). There was no significant difference in U-NAG/Cr between children with grades 1-3 (pooled data) and grade 4, respectively (p = 0.89). There was no correlation between U-NAG/Cr and the grade of hydronephrosis (r = 0.01). CONCLUSIONS: U-NAG/Cr is increased in children with hydronephrosis grade 1-4, and there is no relationship with the grade of hydronephrosis. U-NAG is a useful marker of renal tubular dysfunction, however its relationship with the degree of kidney damage in patients with hydronephrosis should be considered as doubtful.