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2018
DOI: 10.12890/2018_000764
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Osteomalacia in a Case of Adult-Onset Bartter Syndrome

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. LEARNING POINTS Bartter syndrome is one of the rare heterogenous diseases that present with electrolyte disturb… Show more

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“…Second, the usage of drugs and nutritional state in this study population are unclear, which may contribute to bias in the interpretation of the data. Third, some diseases, such as hypophosphatemia or metabolic alkalosis [47], syndrome of inappropriate antidiuretic hormone secretion (SIADH) [11,25], primary hyperaldosteronism [48,49], Cushing syndrome [50][51][52], and Bartter syndrome [53], may be strongly linked to hyponatremia or hypokalemia and fracture incidence but were not excluded or analyzed in this study. Finally, the study is confined to a single trauma center, potentially limiting the generalizability of its findings to broader populations.…”
Section: Discussionmentioning
confidence: 99%
“…Second, the usage of drugs and nutritional state in this study population are unclear, which may contribute to bias in the interpretation of the data. Third, some diseases, such as hypophosphatemia or metabolic alkalosis [47], syndrome of inappropriate antidiuretic hormone secretion (SIADH) [11,25], primary hyperaldosteronism [48,49], Cushing syndrome [50][51][52], and Bartter syndrome [53], may be strongly linked to hyponatremia or hypokalemia and fracture incidence but were not excluded or analyzed in this study. Finally, the study is confined to a single trauma center, potentially limiting the generalizability of its findings to broader populations.…”
Section: Discussionmentioning
confidence: 99%