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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)217-219
Number of pages3
JournalPediatric Nephrology
Volume20
Issue number2
DOIs
Publication statusPublished - Feb 2005

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Cystinosis
Bartter Syndrome
Mutation
Cystine
Metabolic Diseases
Lysosomes
Renal Insufficiency

Keywords

  • Bartter syndrome
  • Genetic evaluation
  • Nephropathic cystinosis
  • Renal failure

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

A new mutation in two siblings with cystinosis presenting with Bartter syndrome. / Pennesi, Marco; Marchetti, Federico; Crovella, Sergio; Boaretto, Francesca; Travan, Laura; Lazzerini, Marzia; Neri, Elena; Ventura, Alessandro.

In: Pediatric Nephrology, Vol. 20, No. 2, 02.2005, p. 217-219.

Research output: Contribution to journalArticle

Pennesi, Marco ; Marchetti, Federico ; Crovella, Sergio ; Boaretto, Francesca ; Travan, Laura ; Lazzerini, Marzia ; Neri, Elena ; Ventura, Alessandro. / A new mutation in two siblings with cystinosis presenting with Bartter syndrome. In: Pediatric Nephrology. 2005 ; Vol. 20, No. 2. pp. 217-219.
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