title: A new mutation in two siblings with cystinosis presenting with Bartter syndrome.
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.
authors.affiliation: Department of Pediatrics, IRCCS Burlo Garofalo, University of Trieste, via dell'Istria 65/1, Trieste, Italy. pennesi@burlo.trieste.it
authors.forename: Marco
authors.initials: M
authors.lastname: Pennesi
authors.forename: Federico
authors.initials: F
authors.lastname: Marchetti
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.forename: Laura
authors.initials: L
authors.lastname: Travan
authors.forename: Marzia
authors.initials: M
authors.lastname: Lazzerini
authors.forename: Elena
authors.initials: E
authors.lastname: Neri
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
mesh_terms: 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