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

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

doi:10.1007/s00467-004-1702-y

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

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	217-219
Number of pages	3
Journal	Pediatric Nephrology
Volume	20
Issue number	2
DOIs	https://doi.org/10.1007/s00467-004-1702-y
Publication status	Published - Feb 2005

Keywords

Bartter syndrome
Genetic evaluation
Nephropathic cystinosis
Renal failure

ASJC Scopus subject areas

Nephrology
Pediatrics, Perinatology, and Child Health

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10.1007/s00467-004-1702-y

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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.",

keywords = "Bartter syndrome, Genetic evaluation, Nephropathic cystinosis, Renal failure",

author = "Marco Pennesi and Federico Marchetti and Sergio Crovella and Francesca Boaretto and Laura Travan and Marzia Lazzerini and Elena Neri and Alessandro Ventura",

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AU - Pennesi, Marco

AU - Marchetti, Federico

AU - Crovella, Sergio

AU - Boaretto, Francesca

AU - Travan, Laura

AU - Lazzerini, Marzia

AU - Neri, Elena

AU - Ventura, Alessandro

PY - 2005/2

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AB - 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.

KW - Bartter syndrome

KW - Genetic evaluation

KW - Nephropathic cystinosis

KW - Renal failure

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