First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10385716" target="_blank" >RIV/00216208:11130/18:10385716 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11140/18:10385716 RIV/00064203:_____/18:10385716

Result on the web

<a href="https://doi.org/10.1016/j.transproceed.2018.07.010" target="_blank" >https://doi.org/10.1016/j.transproceed.2018.07.010</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.transproceed.2018.07.010" target="_blank" >10.1016/j.transproceed.2018.07.010</a>

Result language

angličtina

Original language name

First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report

Original language description

Mutations in nucleoporin 93 (NUP93) gene have been shown recently to be one of the very rare causes of genetic steroid-resistant nephrotic syndrome (SRNS). Until now, none of the 7 published cases with NUP93-SRNS, experienced recurrence of nephrotic syndrome (NS) after transplantation. Here, we present the first case of recurrent NS in a patient with NUP93-SRNS ever reported. A 3-year-old boy with infantile SRNS was started on chronic peritoneal dialysis because of end-stage renal failure owing to biopsy-proven focal segmental glomerulosclerosis (FSGS). At the age of 6 years, the boy received a renal allograft. The posttransplant period was uncomplicated until 1.7 years after transplantation, when the patient developed nephrotic proteinuria during a respiratory tract infection. Renal graft biopsy showed subtotal fusion of podocytes, which was compatible with an early histopathologic sign of recurrence of FSGS Immediate treatment with daily plasma exchange (PE) was started at the second day. The proteinuria disappeared completely after the second PE. However, it reappeared after stopping daily PE. It disappeared again after reintroduction of daily PE, therefore PE-dependent recurrent NS was diagnosed and treatment with rituximab was given. After the first dose, proteinuria never reappeared despite stopping PE therapy. Surprisingly, next-generation sequencing revealed compound heterozygous mutations in exons 16 and 18 of the NUP93 gene (c.1772G&gt;T - European founder allele and 1916T&gt;C) and his parents confirmed heterozygous asymptomatic carriers. This is the first case of recurrent NS in a patient with NUP93 gene mutations, suggesting a new pathomechanism possibly involving the nucleoporins.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30217 - Urology and nephrology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Transplantation Proceedings

ISSN

0041-1345

e-ISSN

—

Volume of the periodical

50

Issue of the periodical within the volume

10

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

3954-3956

UT code for WoS article

000454972000172

EID of the result in the Scopus database

2-s2.0-85058552243