A new mutation in two siblings with cystinosis presenting with Bartter syndrome.
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
Marco
M
Department of Pediatrics, IRCCS Burlo Garofalo, University of Trieste, via dell'Istria 65/1, Trieste, Italy. pennesi@burlo.trieste.it
Marchetti
Federico
F
Crovella
Sergio
S
Boaretto
Francesca
F
Travan
Laura
L
Lazzerini
Marzia
M
Neri
Elena
E
Ventura
Alessandro
A
D001477:Bartter Syndrome / Q000235:genetics*; D002675:Child, Preschool; D003554:Cystinosis / Q000150:complications / Q000235:genetics*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D035781:Siblings