JLE

Médecine thérapeutique / Pédiatrie

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Hereditary nephrotic syndrome Volume 18, issue 4, October-November-December 2015

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Authors
AP-HP
Hôpital universitaire Robert-Debré
Service de néphrologie pédiatrique
48, boulevard Sérurier
75935 Paris cedex 19
France
* Tirés à part

Mutation in genes leading to hereditary nephrotic syndrome exclusively affect proteins in the glomerular wall. In 80% of patients, mutation is identified in the following five genes: nephrin, podocin, phospholipase-Cε, WT1, and laminin β2. Hereditary nephrotic syndrome manifests as four different clinical forms: (1) congenital nephrotic syndrome present at birth or the first few weeks of life; (2) steroid-resistant nephrotic syndrome commencing between one and ten years, which cannot be differentiated from idiopathic steroid-resistant nephrotic syndrome; (3) syndromic nephrotic syndrome; and (4) chronic proteinuria that starts in childhood and gradually progresses to nephrotic syndrome in adulthood. All these forms exhibit progression to end-stage renal disease (ESRD).