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Osteomalacia in a Case of Adult-Onset Bartter Syndrome
oleh: Rashid Naseem Khan, Farhana Saba
Format: | Article |
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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.