A new mutation in two siblings with cystinosis presenting with Bartter syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Affiliation:	(1) Department of Pediatrics, IRCCS Burlo Garofalo, University of Trieste, Italy;(2) Department of Child Health and Human Development, Department of Genetics, University of Trieste, Italy;(3) Clinica Pediatrica, IRCCS Burlo Garofolo, via dellIstria 65/1, Trieste, Italy

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:	Nephropathic cystinosis Bartter syndrome Renal failure Genetic evaluation
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