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
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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 |
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| 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 |
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