European journal of case reports in internal medicine · 2018
Osteomalacia in a Case of Adult-Onset Bartter Syndrome.
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Khan Rashid Naseem, Saba Farhana
Аннотация
UNLABELLED: 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.
LEARNING POINTS: Bartter syndrome is one of the rare heterogenous diseases that present with electrolyte disturbances.Bartter syndrome type 5 also causes hypercalciuria which is not severe enough to cause osteomalacia.Patients with adult-onset Bartter syndrome should be screened promptly for osteomalacia to prevent pathological fractures and consequent complications.
LEARNING POINTS: Bartter syndrome is one of the rare heterogenous diseases that present with electrolyte disturbances.Bartter syndrome type 5 also causes hypercalciuria which is not severe enough to cause osteomalacia.Patients with adult-onset Bartter syndrome should be screened promptly for osteomalacia to prevent pathological fractures and consequent complications.