Osteomalacia in a Case of Adult-Onset Bartter Syndrome

oleh: Rashid Naseem Khan, Farhana Saba

Format: Article
Diterbitkan: SMC MEDIA SRL 2018-01-01

Deskripsi

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.