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Bartter type v: a calcium sensing receptor activating mutation

Author: 
Salwa Nassif Azar, Patrick CharbelSarkis, Akram Salim Echtay and Mohamad Souheil El Rawas
Abstract: 

Hypoparathyroidism, a rare disorder characterized by hypocalcemia and hyperphosphatemia, has been attributed to many causes. When the culprit is an activated mutation of the calcium sensing receptor which is also expressed in the kidney, it can be associated with Bartter phenotype: hypokalemia, hypomagnesemia and metabolic alkalosis. We report a case of a 59-year-old female patient recently diagnosed with Parkinson disease who presented with generalized tonic-clonic seizures. The patient was found to have severe hypocalcemia with the salt-losing phenotype and improved after repletion with calcium, potassium, magnesium and vitamin D. After excluding other causes of primary hypoparathyroidism, the patient was found to have late onset presenting Bartter type V syndrome. This case report helps understand the pathophysiology, clinical presentation and treatment of Bartter type V syndrome; it also helps establish the fact that it is an endocrine disorder.

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