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
|
Text
document (17).pdf - Published Version Download (1MB) | Preview |
Official URL: https://ejcrim.com/index.php/EJCRIM/article/view/7...
Abstract
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 |