| Genetic forms of nephrotic syndrome: a single-center experience in Brussels. | |
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MedLine Citation:
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PMID: 18709391 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The aim of the study was to present our experience in treating children with genetic forms of nephrotic syndrome and diagnosing these diseases. We retrospectively reviewed the clinical data, mutational analyses, histopathological features, treatment modalities, and outcome of 26 consecutive children (20 families) suffering from congenital and/or steroid-resistant nephrotic syndrome who were assessed by genetic analysis. Ten out of 26 children (38%) had congenital nephrotic syndrome, 4/26 (15%) had infantile nephrotic syndrome, 10/26 (38%) had late-onset nephrotic syndrome, and 2/26 (9%) had asymptomatic proteinuria. We detected a mutation in 21/26 (81%) patients and in 15/20 (75%) families. NPHS1 mutation analyses were positive in 4/20 (20%), NPHS2 mutations in 4/20 (20%), WT1 mutations in 4/20 (20%), and PLCE1 mutations in 3/20 (15%) families. NPHS1 and PLCE1 mutations were solely found in patients with the earliest onset. The majority of patients, especially those with early onset of nephrotic syndrome, had serious adverse events related to the nephrotic status, and 19/26 (73%) reached end-stage renal failure at a median age of 27 months. Genetic forms of nephrotic syndrome comprise a heterogeneous group of genetic mutations. The progression toward end-stage renal failure is the rule but is highly variable between patients. |
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Authors:
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Khalid Ismaili; Audrey Pawtowski; Olivia Boyer; Karl Martin Wissing; Françoise Janssen; Michelle Hall |
Publication Detail:
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Type: Journal Article Date: 2008-08-16 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 24 ISSN: 0931-041X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2008-12-22 Completed Date: 2009-05-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 287-94 Citation Subset: IM |
Affiliation:
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Department of Pediatric Nephrology, Hôpital Universitaire des Enfants - Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium. khalid.ismaili@huderf.be |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Age of Onset Belgium Child Child, Preschool Denys-Drash Syndrome / genetics Female Frasier Syndrome / genetics Humans Infant Infant, Newborn Intracellular Signaling Peptides and Proteins / genetics* Kidney Neoplasms / congenital, genetics Male Membrane Proteins / genetics* Nephrotic Syndrome / congenital, genetics* Phosphoinositide Phospholipase C / genetics* Proteinuria / congenital, genetics Retrospective Studies WT1 Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/NPHS2 protein; 0/WT1 Proteins; 0/nephrin; EC 3.1.4.11/Phosphoinositide Phospholipase C; EC 3.1.4.11/phospholipase C epsilon |
| Comments/Corrections | |
Erratum In:
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Pediatr Nephrol. 2009 Feb;24(2):425 Note: Pawtowski, Audrey [added]; Boyer, Olivia [added] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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