Osteomalacia in a Case of Adult-Onset Bartter Syndrome

Naseem Khan, Rashid and Saba, Farhana (2017) Osteomalacia in a Case of Adult-Onset Bartter Syndrome. European Journal of Case Reports in Internal Medicine, 5 (3). ISSN 2284-2594

document (17).pdf - Published Version

Download (1MB) | Preview
Official URL: https://ejcrim.com/index.php/EJCRIM/article/view/7...


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.

Item Type: Article
Uncontrolled Keywords: Bartter syndrome, metabolic alkalosis, hypokalemia, hypocalcemia, osteomalacia, CaSR
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User: Chiara D'Arpa
Date Deposited: 18 May 2018 14:13
Last Modified: 18 May 2018 14:13
URI: http://eprints.bice.rm.cnr.it/id/eprint/17776

Actions (login required)

View Item View Item