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 |
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Pages (from-to) | 217-219 |
Number of pages | 3 |
Journal | Pediatric Nephrology |
Volume | 20 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 2005 |
Keywords
- Bartter syndrome
- Genetic evaluation
- Nephropathic cystinosis
- Renal failure
ASJC Scopus subject areas
- Nephrology
- Pediatrics, Perinatology, and Child Health