278 results on '"Patrick Niaudet"'
Search Results
252. Fièvre hémorragique avec syndrome rénal: Une cause exceptionnelle d'insuffisance rénale chronique en France
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Patrick Niaudet, Marie-France Gagnadoux, C. Guyot, B. Le Guenno, R. Novo, B. Soto, and Michel Broyer
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Pediatrics, Perinatology and Child Health - Published
- 1996
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253. Atteinte vasculorénale dans le syndrome d'Alagille
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J Sarles, Etienne Bérard, and Patrick Niaudet
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Pediatrics, Perinatology and Child Health - Published
- 1995
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254. Hypocalcémie avec hypomagnésémic révélatrices d'un syndrome de Bartter
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Jacques Brouard, M Dechaux, P. Eckart, Patrick Niaudet, and J.F. Duhamel
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Pediatrics, Perinatology and Child Health - Published
- 1995
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255. Improvement of Renal Function in Pediatric Heart Transplant Recipients Treated with Low-Dose Calcineurin Inhibitor and Mycophenolate Mofetil.
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Olivia Boyer, Michle Dechaux, Marie-Claire Gubler, and Patrick Niaudet
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- 2005
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256. Ask the expert
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Patrick Niaudet
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Nephrology ,business.industry ,Pediatrics, Perinatology and Child Health ,Prednisolone ,medicine ,Steroid-responsive nephrotic syndrome ,Pharmacology ,business ,medicine.drug - Published
- 1992
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257. Steroid-Resistant Idiopathic Nephrotic Syndrome and Ciclosporin
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Patrick Niaudet
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Pediatrics ,medicine.medical_specialty ,business.industry ,Drug resistance ,Ciclosporin ,medicine.disease ,Steroid resistant ,Cyclosporins ,Methylprednisolone ,Prednisone ,medicine ,Pediatric nephrology ,business ,Nephrotic syndrome ,medicine.drug - Published
- 1991
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258. Ask the expert
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Patrick Niaudet
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Text mining ,Proteinuria ,Nephrology ,business.industry ,Hepatitis b surface antigen test ,Pediatrics, Perinatology and Child Health ,Immunology ,MEDLINE ,Medicine ,medicine.symptom ,business - Published
- 1990
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259. Acute lymphoblastic leukaemia associated antigen—II. Isolation and partial characterisation
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Melvyn Greaves, John E. Smart, Robert Sutherland, and Patrick Niaudet
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Cancer Research ,Polyacrylamide ,Cell ,Hematology ,Biology ,Antigen binding ,Molecular biology ,chemistry.chemical_compound ,medicine.anatomical_structure ,Oncology ,chemistry ,Antigen ,Cell culture ,medicine ,Lymphoblastic leukaemia ,Surface expression ,Membrane antigen - Abstract
An acute lymphoblastic leukaemia (ALL) associated antigen has been isolated and purified from leukaemic cells and established leukaemic cell lines. Under reducing conditions the antigenic determinants are identified on a single glycosylated polypeptide with an apparent molecular weight in 10% SDS polyacrylamide gels of 100,000 daltons. The cellular specificity of this molecular species parallels that of the ALL membrane antigen previously defined by antibody binding criteria on whole cells (see previous paper). Leukaemic cell lines release the 100K molecule into the culture medium in a soluble form and one line (MOLT-4) produces these molecules but has no detectable cell surface expression. more...
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- 1978
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260. Thymic Function in NZB Mice
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Marie-Anne Bach and Patrick Niaudet
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Immunology ,Immunology and Allergy - Abstract
Administration of a circulating thymic factor isolated from normal pig blood prevented the development of the exaggerated production of anti-polyvinyl pyrrolidone (PVP) antibody in young NZB mice. However, treatment was ineffective if initiated after the 4th week of life at a time when endogenous serum thymic factor (TF) normally disappears in these mice. These data suggest that circulating TF is necessary for the survival of short-lived suppressor T cells normally implicated in the regulation of the production of antibodies against PVP, a thymus-independent antigen. In older NZB mice, TF treatment increased paradoxically anti-PVP antibody production, which suggests that “amplifier” T cell activity could also be under TF influence. more...
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- 1976
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261. Treatment of Idiopathic Nephrotic Syndrome with Levamisole
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Patrick Niaudet, R. Drachman, Michel Broyer, and Gagnadoux Mf
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Male ,medicine.medical_specialty ,Nephrotic Syndrome ,Neutropenia ,Idiopathic Nephrotic Syndrome ,Gastroenterology ,Phagocytosis ,Internal medicine ,medicine ,Humans ,Child ,Clinical Trials as Topic ,business.industry ,Chemotaxis ,Infant ,Mean age ,General Medicine ,Levamisole ,Endocrinology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Prednisone ,Female ,business ,medicine.drug - Abstract
Thirty children with frequently relapsing idiopathic nephrotic syndrome (INS) were treated with levamisole (2.5 mg/kg BW) twice a week for a mean period of 9.9 months. A beneficial effect was observed in 16 children in whom corticosteroids could be significantly decreased without relapse. Levamisole was ineffective in 14 patients. There was no difference between the two groups in the duration of INS, the number of relapses and the duration of treatment with levamisole. The mean age at onset of INS was higher in the group of patients where levamisole was effective (5.8 years versus 2.8 years). In 7 patients who responded to levamisole neutrophils decreased below 4 X 10(9)/l. Transient granulocytopenia was observed in 3. It is concluded that levamisole may be effective in frequently relapsing INS with minimal side effects. more...
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- 1984
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262. Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database
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Erick Denamur, Cécile Jeanpierre, Marie-Claire Gubler, A. Cécille, Jacques Elion, I. Henry, Claudine Junien, Sandrine Luce, Chantal Loirat, Patrick Niaudet, M.-O. Cabanis, and Michel Peuchmaur
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Male ,Denys–Drash syndrome ,Genes, Wilms Tumor ,Databases, Factual ,Urogenital development ,Molecular Sequence Data ,Disorders of Sex Development ,Biology ,Wilms Tumor ,Loss of heterozygosity ,Exon ,Genotype ,medicine ,Genetics ,Genotype/phenotype correlations ,Humans ,Genetics(clinical) ,Amino Acid Sequence ,WT1 Proteins ,Genetics (clinical) ,Denys-Drash syndrome ,Male Phenotype ,Genetic heterogeneity ,fungi ,Infant, Newborn ,Infant ,Syndrome ,WT1 mutations ,medicine.disease ,Phenotype ,Isolated diffuse mesangial sclerosis ,Frasier syndrome ,Kidney Neoplasms ,DNA-Binding Proteins ,Child, Preschool ,Mutation ,Female ,Transcription Factors ,Research Article - Abstract
Summary Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutations in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9. We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT. We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with IDMS. One male and two female IDMS patients with WT1 mutations underwent normal puberty. Two mutations associated with IDMS are different from those described in DDS patients. No WT1 mutations were detected in the six other IDMS patients, suggesting genetic heterogeneity of this disease. We analyzed genotype/phenotype correlations, on the basis of the constitution of a WT1 mutation database of 84 germ-line mutations, to compare the distribution and type of mutations, according to the different symptoms. This demonstrated (1) the association between mutations in exons 8 and 9 and DMS; (2) among patients with DMS, a higher frequency of exon 8 mutations among 46,XY patients with female phenotype than among 46,XY patients with sexual ambiguity or male phenotype; and (3) statistically significant evidence that mutations in exons 8 and 9 preferentially affect amino acids with different functions. more...
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263. NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence
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Olivier Gribouval, Stefanie Weber, Christophe Legendre, Patrick Niaudet, Marie Josèphe Tête, Vincent Morinière, Corinne Antignac, and Ernie L. Esquivel
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medicine.medical_specialty ,Heterozygote ,Nephrotic Syndrome ,Genetic Linkage ,030232 urology & nephrology ,Drug Resistance ,Gastroenterology ,Frameshift mutation ,03 medical and health sciences ,Genetic Heterogeneity ,0302 clinical medicine ,Focal segmental glomerulosclerosis ,Recurrence ,Internal medicine ,steroid-resistant nephrotic syndrome ,medicine ,Missense mutation ,Humans ,Age of Onset ,Child ,030304 developmental biology ,Genetics ,0303 health sciences ,Polymorphism, Genetic ,Genetic heterogeneity ,business.industry ,Homozygote ,Intracellular Signaling Peptides and Proteins ,NPHS2 gene ,Membrane Proteins ,Glomerulonephritis ,diffuse mesangial sclerosis ,medicine.disease ,Kidney Transplantation ,3. Good health ,Steroid-resistant nephrotic syndrome ,Transplantation ,Proteinuria ,Phenotype ,Nephrology ,Child, Preschool ,Steroids ,business ,Nephrotic syndrome ,podocin - Abstract
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Background Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic syndrome (SRNS). This study aimed to determine the spectrum of NPHS2 mutations and to establish genotype-phenotype correlations. Methods NPHS2 mutation analysis was performed in 338 patients from 272 families with SRNS: 81 families with AR SRNS, 172 patients with sporadic SRNS, and 19 patients with diffuse mesangial sclerosis (DMS). Results Twenty-six different pathogenic NPHS2 mutations were detected, including 13 novel mutations. The mutation detection rate was 43% for familial AR and 10.5% for sporadic SRNS, confirming genetic heterogeneity. No pathogenic NPHS2 mutations were found in DMS patients. Age at onset in patients with two pathogenic mutations was earlier, especially in cases with frameshift, truncating, and the R138Q missense mutations. Patients with only one NPHS2 mutation or variant had late-onset NS. Triallelic inheritance was observed in one patient with a homozygous R138Q mutation and a de novo NPHS1 mutation. Among 32 patients with two NPHS2 mutations who underwent kidney transplantation, only one developed late recurrence of focal segmental glomerulosclerosis (FSGS). Among 25 patients with sporadic SRNS and post-transplantation recurrence, we detected a heterozygous NPHS2 mutation in one case, and heterozygous variants/polymorphisms in 3 cases. Conclusion Patients with two pathogenic NPHS2 mutations present with early-onset SRNS and very low incidence of post-transplantation recurrence. Heterozygous NPHS2 variants may play a role in atypical cases with mild, late-onset course, and recurrence after transplantation. more...
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264. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
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Mark B. Consugar, Wai C. Wong, Patrick A. Lundquist, Sandro Rossetti, Vickie J. Kubly, Denise L. Walker, Laureano J. Rangel, Richard Aspinwall, W. Patrick Niaudet, Seza Özen, Albert David, Milen Velinov, Eric J. Bergstralh, Kyongtae T. Bae, Arlene B. Chapman, Lisa M. Guay-Woodford, Jared J. Grantham, Vicente E. Torres, Julian R. Sampson, Brian D. Dawson, Peter C. Harris, null for the CRISP Consortium, and Çocuk Sağlığı ve Hastalıkları more...
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Male ,TRPP Cation Channels ,PKD1/TSC2-CGS ,Pseudogene ,PKD2 ,DNA Mutational Analysis ,Autosomal dominant polycystic kidney disease ,030204 cardiovascular system & hematology ,Biology ,medicine.disease_cause ,urologic and male genital diseases ,Contiguous gene syndrome ,Article ,03 medical and health sciences ,0302 clinical medicine ,Tuberous Sclerosis Complex 2 Protein ,medicine ,Humans ,Multiplex ligation-dependent probe amplification ,030304 developmental biology ,ADPKD ,Family Health ,Gene Rearrangement ,Genetics ,0303 health sciences ,Mutation ,PKD1 ,Donor selection ,urogenital system ,Tumor Suppressor Proteins ,deletions ,Gene rearrangement ,Urology & Nephrology ,Polycystic Kidney, Autosomal Dominant ,medicine.disease ,female genital diseases and pregnancy complications ,Pedigree ,3. Good health ,MLPA ,Nephrology ,embryonic structures ,Female ,mosaic ,Gene Deletion - Abstract
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by mutations in either PKD1 or PKD2. PKD1 is located in an intrachromosomally duplicated region. A tuberous sclerosis gene, TSC2, lies immediately adjacent to PKD1 and large deletions can result in the PKD1/TSC2 contiguous gene deletion syndrome. To rapidly identify large rearrangements, a multiplex ligation-dependent probe amplification assay was developed employing base-pair differences between PKD1 and the six pseudogenes to generate PKD1-specific probes. All changes in a set of 25 previously defined deletions in PKD1, PKD2 and PKD1/TSC2 were detected by this assay and we also found 14 new mutations at these loci. About 4% of the ADPKD patients in the CRISP study were found to have gross rearrangements, and these accounted for about a third of base-pair mutation negative families. Sensitivity of the assay showed that about 40% of PKD1/TSC contiguous gene deletion syndrome families contained mosaic cases. Characterization of a family found to be mosaic for a PKD1 deletion is discussed here to illustrate family risk and donor selection considerations. Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD. more...
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265. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy
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Manfred Weber, Jörg Dötsch, Said Lebbah, Simone Wygoda, Laurence Heidet, Martin Konrad, Burkhard Tönshoff, Bernd Hoppe, Pierre Cochat, Christoph Licht, Oliver Gross, Gerhard A. Müller, Lars Pape, Katharina Lange, Wolfgang Rascher, Yves Pirson, Britta Höcker, Jochen H. H. Ehrich, Hans J. Anders, Roser Torra, Patrick Niaudet, Bertrand Knebelmann, Dirk E. Müller-Wiefel, Jean-Pierre Grünfeld, Peter F. Hoyer, Tim Friede, and Bodo B. Beck more...
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Nephrology ,Male ,Pediatrics ,medicine.medical_treatment ,030232 urology & nephrology ,Medizin ,Angiotensin-Converting Enzyme Inhibitors ,Nephritis, Hereditary ,Kaplan-Meier Estimate ,Kidney ,urologic and male genital diseases ,renal insufficiency ,0302 clinical medicine ,Medicine ,Longitudinal Studies ,Child ,0303 health sciences ,nephroprotection ,Proteinuria ,Middle Aged ,3. Good health ,Renal Replacement Therapy ,Survival Rate ,Treatment Outcome ,Child, Preschool ,Disease Progression ,Female ,medicine.symptom ,Adult ,medicine.medical_specialty ,Adolescent ,Endpoint Determination ,Renal function ,03 medical and health sciences ,Young Adult ,Life Expectancy ,Internal medicine ,Humans ,Renal replacement therapy ,Alport syndrome ,Dialysis ,030304 developmental biology ,Retrospective Studies ,business.industry ,fibrosis ,Infant ,medicine.disease ,Surgery ,Microalbuminuria ,business ,chronic kidney disease ,Kidney disease - Abstract
Alport syndrome inevitably leads to end-stage renal disease and there are no therapies known to improve outcome. Here we determined whether angiotensin-converting enzyme inhibitors can delay time to dialysis and improve life expectancy in three generations of Alport families. Patients were categorized by renal function at the initiation of therapy and included 33 with hematuria or microalbuminuria, 115 with proteinuria, 26 with impaired renal function, and 109 untreated relatives. Patients were followed for a period whose mean duration exceeded two decades. Untreated relatives started dialysis at a median age of 22 years. Treatment of those with impaired renal function significantly delayed dialysis to a median age of 25, while treatment of those with proteinuria delayed dialysis to a median age of 40. Significantly, no patient with hematuria or microalbuminuria advanced to renal failure so far. Sibling pairs confirmed these results, showing that earlier therapy in younger patients significantly delayed dialysis by 13 years compared to later or no therapy in older siblings. Therapy significantly improved life expectancy beyond the median age of 55 years of the no-treatment cohort. Thus, Alport syndrome is treatable with angiotensin-converting enzyme inhibition to delay renal failure and therapy improves life expectancy in a time-dependent manner. This supports the need for early diagnosis and early nephroprotective therapy in oligosymptomatic patients. more...
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266. Nephronophthisis
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Rémi Salomon, Patrick Niaudet, and Sophie Saunier
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Pathology ,medicine.medical_specialty ,Positional cloning ,Ciliopathy ,Genes, Recessive ,Senior–Løken syndrome ,Ciliopathies ,Senior-Løken syndrome ,Cystic kidney disease ,Nephronophthisis ,medicine ,Polycystic kidney disease ,Chronic renal failure ,Humans ,Cilia ,Pediatrics, Perinatology, and Child Health ,Child ,Educational Review ,Kidney ,Polycystic Kidney Diseases ,business.industry ,Chronic tubulointerstitial nephritis ,medicine.disease ,medicine.anatomical_structure ,Nephrology ,Pediatrics, Perinatology and Child Health ,Kidney Failure, Chronic ,Nephritis, Interstitial ,business ,Retinitis Pigmentosa - Abstract
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Løken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins. more...
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267. Altered oxidative metabolism, motility, and adherence in phagocytic cells from cystinotic children
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Guillem Pintos Morell, Béatrice Descamps-Latscha, Patrick Niaudet, and Geneviève Jean
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medicine.medical_specialty ,Neutrophils ,Cell ,Cystinosis ,Motility ,Oxidative phosphorylation ,Biology ,Stimulus (physiology) ,In Vitro Techniques ,Monocytes ,Immune system ,Cell Movement ,Internal medicine ,medicine ,Cell Adhesion ,Humans ,Receptor ,Child ,Whole blood ,Phagocytes ,Chemotaxis, Leukocyte ,medicine.anatomical_structure ,Endocrinology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Luminescent Measurements ,Oxidation-Reduction ,Chemotaxis assay - Abstract
The present study investigates whether the metabolic abnormalities in cystinotic cells could affect nonspecific immune responses. Lymphocytes showed normal antibody-dependent cellular cytotoxicity and natural killer activity. However, cystinotic polymorphonuclear and mononuclear phagocytes exhibited altered oxidative responses as monitored by a luminol dependent chemiluminescence (CL) assay. Both isolated polymorphonuclear and mononuclear phagocytes in the absence of stimuli showed significantly increased CL production which was not found when cells were tested directly within whole blood. CL responses to a panel of stimuli differed markedly according to the type of cells and agents tested. Indeed, isolated polymorphonuclear demonstrated increased CL responses to soluble but not particulate agents, whereas isolated mononuclear phagocytes and overall cell CL responses in whole blood were found to be within the normal range regardless of the type of stimulus used. We also studied some membrane related properties of phagocytic cells. Fc and C3b receptors were normally expressed as tested by erythrocyte-antibody and erythrocyte-antibody-complement rosette-forming cells. Nevertheless, cystinotic polymorphonuclear and mononuclear phagocytes presented decreased random and directed migrations in an under-agarose chemotaxis assay. Finally, cystinotic granulocytes showed an impaired adhesiveness in a nylon fiber assay. more...
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- 1985
268. Loss of Ultrafiltration and Peritoneal Membrane Alterations in Children on CAPD
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Patrick Niaudet, Marie-Claire Gubler, Broyer M, and R. Drachman
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medicine.medical_specialty ,business.industry ,Peritoneal membrane ,medicine.medical_treatment ,Continuous ambulatory peritoneal dialysis ,Ultrafiltration ,Peritonitis ,medicine.disease ,Gastroenterology ,Peritoneal dialysis ,medicine.anatomical_structure ,Maintenance therapy ,Peritoneum ,Internal medicine ,medicine ,business ,Complication - Abstract
Continuous ambulatory peritoneal dialysis (CAPD) is widely used as maintenance therapy in patients with end-stage renal disease (ESRD). CAPD was introduced as a treatment for children in 1978, and the use of CAPD has increased steadily since then [1–4]. Although this technique is a valuable short-term therapeutic approach, little information is available concerning the long-term side effects of this mode of treatment in children. Several reports in adults have described a permanent loss of ultrafiltration associated with increased glucose absorption from the dialysate [5–8]. Several factors are probably responsible for this complication; for example, prolonged exposure of the peritoneum to acetate-containing dialysate has been incriminated [6, 7]. The histologic changes of the peritoneal membrane associated with isolated loss of ultrafiltration have not been documented. Some patients develop an encapsulating sclerosing peritonitis, in which a thick, fibrous membrane surrounds and compresses the bowel [9]. Most patients with sclerosing peritonitis suffer loss of ultrafiltration. However, it is not known if isolated loss of ultrafiltration and encapsulating peritonitis represent two extremes of the same disease process. more...
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- 1985
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269. Ciclosporine Treatment of Childhood Idiopathic Neprhosis
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Patrick Niaudet, Michel Broyer, and Renée Habib
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medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Nephrosis ,Steroid responsive ,medicine.disease ,Gastroenterology ,Steroid resistant ,Steroid ,Histological lesion ,Immunosuppressive drug ,Steroid therapy ,Internal medicine ,medicine ,Minimal change disease ,business - Abstract
Children with idiopathic nephrosis are usually treated with corticosteroids and, in the vast majority of cases, nephrosis is steroid responsive. However, some 60% of cases relapse as soon as steroid therapy is withdrawn or when the dosage is decreased. This constitutes steroid dependant nephrosis where patients may develop serious side effects of steroid therapy. Immunosuppressive drugs, mainly alkylating agents, are effective in these situations but their long term toxic effects also limit their use. Few children with idiopathic nephrosis fail to respond to steroids. In these patients, the effectivness of immunosuppressive drugs have not been demonstrated. In the past few years, several reports have claimed that ciclosporine (CSA) could be beneficial in such patients (17–7). We shall report here our experience with Ciclosporine in 51 children, 37 steroid dependant and 14 steroid resistant. more...
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- 1989
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270. Donor-Specific Blood Transfusion and Renal Graft Survival: A 3-Year Experience in Pediatrics
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Marie-France Gagnadoux, Patrick Niaudet, J. Y. Muller, C. Kaplan, M. F. Reznikoff, and Michel Broyer
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medicine.medical_specialty ,Blood transfusion ,business.industry ,medicine.medical_treatment ,Renal graft ,medicine.disease ,Surgery ,Transplantation ,surgical procedures, operative ,Graft-versus-host disease ,Acute lymphocytic leukemia ,Acute graft versus host disease ,Medicine ,Graft survival ,business - Abstract
The increased graft survival with donor-specific transfusion (DST) reported by Salvatierra and coworkers [1] encouraged us to carry out a similar trial for parental renal transplantation in children. more...
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- 1984
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271. Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome
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Catherine Turleau, Lucien Iris, Charles Sultan, Abdelmoutaleb Mahfound, Claire Nihoul-Fékété, Patrick Niaudet, Jean de Grouchy, and Gilles Rault
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Male ,medicine.medical_specialty ,medicine.drug_class ,Disorders of Sex Development ,WAGR syndrome ,Biology ,Gonadal Dysgenesis ,Wilms Tumor ,Nephropathy ,Internal medicine ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Infant ,Wilms' tumor ,Karyotype ,Syndrome ,medicine.disease ,Androgen ,Human genetics ,Kidney Neoplasms ,Androgen receptor ,Endocrinology ,Receptors, Androgen ,Karyotyping ,Male pseudohermaphroditism ,Gonadal Dysgenesis, Mixed - Abstract
Drash syndrome associates a nephropathy characterized by a diffuse mesangial sclerosis of early onset, Wilms tumor, and male pseudohermaphroditism (MPH). A patient with Drash syndrome is reported with the following: karyotype 46,XY, external genitalia near normal female, mixed gonadal dysgenesis, severe androgen receptor deficiency demonstrated for the first time in this syndrome. The possibility of a common genetic denominator with the del 11p13 WAGR complex is suggested. MPH/nephroblastoma association is common. Androgen receptor deficiency has been observed in one case of each syndrome, respectively. more...
- Published
- 1987
272. Immunosuppressive treatment in childhood idiopathic nephrosis
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Patrick Niaudet and Michel Broyer
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Immunosuppressive treatment ,Nephrotic Syndrome ,business.industry ,Adrenal cortex hormones ,Nephrosis ,Immunology ,Drug Resistance ,Drug resistance ,medicine.disease ,Autoimmune Diseases ,Adrenal Cortex Hormones ,Immunology and Allergy ,Medicine ,Humans ,business ,Child ,Nephrotic syndrome ,Immunosuppressive Agents - Published
- 1989
273. Renal involvement in juvenile chronic arthritis: clinical and pathologic features
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Gérard Chéron, Patrick Niaudet, Anne-Marie Prieur, Marie-Claire Gubler, François Hayem, Patrice Manigne, and Micheline Levy
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Male ,medicine.medical_specialty ,Pathology ,Population ,Arthritis ,Kidney ,Gastroenterology ,Nephropathy ,Internal medicine ,medicine ,Humans ,education ,Child ,education.field_of_study ,medicine.diagnostic_test ,Chlorambucil ,business.industry ,Amyloidosis ,Infant ,medicine.disease ,medicine.anatomical_structure ,Nephrology ,Child, Preschool ,Female ,Kidney Diseases ,Renal biopsy ,business ,Nephrotic syndrome ,medicine.drug - Abstract
Over an 18-year period, renal involvement was diagnosed in 13 patients, who represent 1% of the total juvenile chronic arthritis population referred to us. All had severe arthritis. This study illustrates the importance of renal biopsy and indicates that renal involvement in juvenile chronic arthritis is a heterogeneous group of diseases, with a variety of causes. In eight patients with nephrotic syndrome, renal biopsy revealed amyloidosis. One rapidly died of diffuse amyloidosis and infection. The other seven received chlorambucil. Disappearance of proteinuria was noted in three of them. Four patients have persistent proteinuria but normal serum creatinine. It is suggested that, despite the long-term oncogenic risk of the drug, chlorambucil may be beneficial in patients with amyloid deposits. In one patient, the nephrotic syndrome was attributed to systemic lupus erythematosus, and in another, the chance association of an arthritis and nephrotic syndrome with minimal glomerular changes was considered. Although drug responsibility is difficult to determine in these patients receiving several medications in association, the renal involvement presented by the remaining three patients was probably related to drug(s). Moreover, it is possible that the effect of the association of medications is deleterious to the kidney. Drug-induced nephropathy is usually reversible when drugs are stopped. Unfortunately, because of persistent joint pain, these patients will continue to require pain-relieving drugs over prolonged periods. more...
- Published
- 1987
274. Cyclosporin in the treatment of idiopathic nephrotic syndrome in children
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Renée Habib, Hinglais N, Michel Broyer, Marie-Joseph Tete, and Patrick Niaudet
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Nephrology ,Male ,medicine.medical_specialty ,Nephrotic Syndrome ,medicine.medical_treatment ,Renal function ,Cyclosporins ,Kidney ,Gastroenterology ,Nephrotoxicity ,Prednisone ,Internal medicine ,Cyclosporin a ,medicine ,Humans ,Child ,Chemotherapy ,business.industry ,Infant ,medicine.disease ,Surgery ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Toxicity ,Female ,business ,Nephrotic syndrome ,medicine.drug - Abstract
Thirty-five children (12 girls, 23 boys), aged from 1 year and 5 months to 14 years at the onset of idiopathic nephrotic syndrome, received cyclosporin A (CyA) because of steroid toxicity or failure to respond to steroids. The initial oral dose was 6 mg/kg per day and this was adjusted to obtain trough plasma levels of 50-150 ng/ml. The duration of treatment was between 2 and 8 months. In patients who responded to CyA treatment, the dosage was tapered off; treatment was stopped if found to be ineffective. Of the 35 children, 20 were frequent-relapsing steroid responders who suffered serious side-effects from steroid therapy. Seventeen of them either went into remission or did not relapse despite the withdrawal of prednisone. Prednisone doses could be lowered but not stopped in 1 patient and the remaining 2 patients relapsed when prednisone was tapered off. At the final examination, 10 of the 12 children in whom CyA was tapered off and who had initially responded to CyA had relapsed. A second course was given to these 10 patients and 3 failed to respond. Five children were partial steroid responders and CyA induced a remission in 1 and a partial remission in another. Among the 10 children who were steroid resistant, only 1 responded to CyA, 2 had a partial response and 7 failed to respond to CyA. A reduction of glomerular filtration rate occurred in 8 patients, 7 of whom had either persistent nephrotic syndrome or were in relapse, which suggests that factors other than CyA nephrotoxicity may have been operative. Complete reversal occurred in only 4 patients. Significant histological changes, likely to be related to CyA, were seen in 2 repeat renal biopsies out of the 11 performed. more...
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- 1987
275. Development of human renal function: Reference intervals for 10 biochemical markers in fetal urine
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Patrick Niaudet, Yves Dumez, C Loirat, Françoise Muller, P Aegerter, Yves Aigrain, L Bussières, S. Lortat-Jacob, J F Oury, and Marc Dommergues
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medicine.medical_specialty ,Kidney ,Fetus ,Creatinine ,Biochemistry (medical) ,Clinical Biochemistry ,Renal function ,Gestational age ,Urine ,Biology ,medicine.disease ,chemistry.chemical_compound ,medicine.anatomical_structure ,Endocrinology ,chemistry ,Internal medicine ,Renal physiology ,medicine ,Obstructive uropathy - Abstract
Evaluation of fetal renal function by analysis of fetal urine sampled in utero may improve perinatal care after a prenatal diagnosis of bilateral obstructive uropathy. We provide reference intervals for 10 fetal urinary compounds and examine their variation with gestational age. Forty-one fetuses with bilateral obstructive uropathy (urine sampled between 20 and 38 weeks of gestational age) had normal, healthy values for serum creatinine (< or = 50 mumol/L) at ages 1-2 years. These cases were thus assumed to represent a reasonable approximation to healthy values. Sodium and beta 2-microglobulin concentrations significantly decreased with gestational age; calcium, ammonia, and creatinine significantly increased; glucose, phosphorus, chloride, urea, and total protein concentrations did not vary. Our results provide reference values for prenatal evaluation of fetal renal function and suggest that glomerular filtration of macromolecules and tubular reabsorption of glucose and phosphorus are mature by 20 weeks of gestation, whereas tubular reabsorption of sodium and beta 2-microglobulin increases progressively during the second half of gestation. more...
276. Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis
- Author
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Agnès Rötig, Jacqueline Mikol, Pierre Rustin, Patrick Niaudet, Marie-Claire Gubler, Geneviève Guest, Françoise Goutières, Arnold Munnich, and Dominique Chretien
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Male ,Pathology ,medicine.medical_specialty ,Mitochondrial DNA ,Canavan Disease ,Molecular Sequence Data ,Respiratory chain ,Oxidative phosphorylation ,DNA, Mitochondrial ,Pathogenesis ,Electron Transport ,Cerebrospinal fluid ,medicine ,Humans ,Child ,Muscle, Skeletal ,Base Sequence ,business.industry ,Leukodystrophy ,Brain ,medicine.disease ,Mitochondrial respiratory chain ,Pediatrics, Perinatology and Child Health ,Chronic Disease ,Kidney Failure, Chronic ,Nephritis, Interstitial ,business ,Nephritis ,Gene Deletion - Abstract
We report a mitochondrial DNA deletion (2.6 kb) in a boy with tubulointerstitial nephritis in whom chronic renal failure and leukodystrophy subsequently developed. Elevated lactate values in plasma and cerebrospinal fluid were suggestive of a defect in the mitochondrial respiratory chain. High amounts of deleted mitochondrial DNA were present in muscle and cerebral white matter. On the basis of this observation, we suggest giving consideration to genetic defects of oxidative phosphorylation in any attempt to determine the origin of unexplained chronic tubulointerstitial nephritis, especially when seemingly unrelated organs are involved. more...
277. Ask the expert
- Author
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Patrick Niaudet
- Subjects
medicine.medical_specialty ,Nephrology ,Oliguria ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,medicine.symptom ,Intensive care medicine ,business - Published
- 1989
- Full Text
- View/download PDF
278. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
- Author
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Karine Brochard, Olivia Boyer, Anne Blanchard, Chantal Loirat, Patrick Niaudet, Marie-Alice Macher, Georges Deschenes, Albert Bensman, Stéphane Decramer, Pierre Cochat, Denis Morin, Françoise Broux, Mathilde Caillez, Claude Guyot, Robert Novo, Xavier Jeunemaître, and Rosa Vargas-Poussou more...
- Subjects
BARTTER syndrome ,PHENOTYPES ,NEONATAL diseases ,STATISTICAL correlation ,BIOLOGICAL variation ,GENETIC mutation ,KIDNEY calcification ,GENETICS - Abstract
Background. Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of Henles loop. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. Methods. Charts of 42 children with mutations in KCNJ1 (n = 19), SLC12A1 (n = 13) CLCNKB (n = 6) or BSND (n = 4) were retrospectively analysed. The median follow-up was 8.3 [0.4–18.0] years. Results. We describe 24 new mutations: 10 in KCNJ1, 11 in SLC12A1 and 3 in CLCNKB. The onset of polyhydramnios, birth term, height and weight were similar for all groups; three patients had no history of polyhydramnios or premature birth and had CLCNKB mutations according to a less severe renal sodium wasting. Contrasting with these data, patients with CLCNKB had the lowest potassium (P = 0.006 versus KCNJ1 and P = 0.034 versus SLC12A1) and chloride plasma concentrations (P = 0.039 versus KCNJ1 and P = 0.024 versus SLC12A1) and the highest bicarbonataemia (P = 0.026 versus KCNJ1 and P = 0.014 versus SLC12A1). Deafness at diagnosis was constant in patients with BSND mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations. Nephrocalcinosis was constant in KCNJ1 and SLC12A1 but not in BSND and CLCNKB patients. In most cases, water/electrolyte supplementation + indomethacin led to catch-up growth. Three patients developed chronic renal failure: one with KCNJ1 mutations during the second decade of age and two with CLCNKB and BSND mutations and without nephrocalcinosis during the first year of life. Conclusions. We confirmed in a large cohort of ante/ neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. Chronic renal failure is a rare event, associated in this cohort with three genotypes and not always associated with nephrocalcinosis. [ABSTRACT FROM AUTHOR] more...
- Published
- 2009
- Full Text
- View/download PDF
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