Abstract
Renal transplantation (RTx) is the only curative treatment for most cases of congenital and infantile nephrotic syndrome (NS) caused by genetic defects in glomerular podocyte proteins. The outcome of RTx in these children is usually excellent, with no recurrence of nephrotic syndrome. A subgroup of patients with the Finnish type of congenital nephrosis (CNF), shows, however, a clear risk for post-RTx proteinuria. Most of these patients have a homozygous truncating mutation (Fin-major mutation) in the nephrin gene (NPHS1), leading to total absence of the major podocyte protein, nephrin. After RTx, these patients develop anti-nephrin antibodies resulting in nephrotic range proteinuria. Plasma exchange combined with cyclophosphamide and anti-CD20 antibodies has proved to be successful therapy for these episodes. NS recurrence has also occurred in a few patients with mutations in the podocin gene (NPHS2). No anti-podocin antibodies have been detectable, and the pathophysiology of the recurrence remains open. While most of these episodes have resolved, the optimal therapy remains to be determined.
Highlights
Congenital nephrotic syndrome (CNS), defined as severe proteinuria during the first 3 months of life, leads to hypoproteinemia, oliguria, edema, and other consequences of severe protein loss such as hyperlipidemia, hypothyreosis, C
It must be emphasized that recurrence of proteinuria after RTx is quite common in non-genetic forms of steroid-resistant nephrotic syndrome (SRNS) [2], which account for the majority (80 %) of SRNS cases in childhood
As this variant appears in 3.6 % of the population, the risk exists that a parent of a patient with an NPHS2 mutation might bear the pR229Q variant, which might later lead to proteinuria
Summary
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation Christer Holmberg & Hannu Jalanko. This article is published with open access at Springerlink.com
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