Osteomalacia in adult-onset bartter syndrome
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.

Published in the European Journal of Case Reports in Internal Medicine, the authors 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.


A 28-year-old woman was admitted with a 3-month history of generalized weakness and fatigue and severe left hip pain for 2 days. The first episode of generalized physical aches, fatigue and left thigh pain had occurred 5 years previously when she was admitted to a different hospital and on laboratory work-up was found to have hypokalaemia.
X-rays revealed a fracture of superior ramus of the left pubic bone and proximal parts of the right and left femurs. She was conservatively managed for her fractures and her weakness improved with potassium replacement.

Now she had again developed the same but more severe symptoms. She denied taking laxatives and had no complaints of diarrhoea or vomiting. She had no significant family history and had normal dietary habits.

On examination, the patient appeared relatively well. She was 147 cm tall and a weighed 50 kg. Her pulse rate was 98/min, blood pressure was 100/70 mmHg, and respiration rate was 16/min. Her left thigh was immobile and extremely tender, but there were no open wounds and no loss of sensation or vascular compromise. Examination of all other systems was unremarkable.

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