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.
Pennesi, M., Marchetti, F., Crovella, S., Boaretto, F., Travan, L., Lazzerini, M., et al. (2004). A new mutation in two siblings with cystinosis presenting with Bartter syndrome. PEDIATRIC NEPHROLOGY, 20(2), 217-219 [10.1007/s00467-004-1702-y].
A new mutation in two siblings with cystinosis presenting with Bartter syndrome
Marchetti, FedericoSecondo
Investigation
;
2004
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
