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01-02-2005 | Brief Report

A new mutation in two siblings with cystinosis presenting with Bartter syndrome

Authors: Marco Pennesi, Federico Marchetti, Sergio Crovella, Francesca Boaretto, Laura Travan, Marzia Lazzerini, Elena Neri, Alessandro Ventura

Published in: Pediatric Nephrology | Issue 2/2005

Abstract

Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment. Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported. We describe two siblings with nephropathic cystinosis presenting with features of Bartter syndrome and their genetic pattern.

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Title: A new mutation in two siblings with cystinosis presenting with Bartter syndrome
Authors: Marco Pennesi
Federico Marchetti
Sergio Crovella
Francesca Boaretto
Laura Travan
Marzia Lazzerini
Elena Neri
Alessandro Ventura
Publication date: 01-02-2005
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 2/2005
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-004-1702-y

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A new mutation in two siblings with cystinosis presenting with Bartter syndrome

Abstract

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Springer Medicine

Abstract

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