A Case of Pseudohypoparathyroidism Type 1b Associated With a Bartter-like Syndrome : The Endocrinologist

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CME Review Article #3

A Case of Pseudohypoparathyroidism Type 1b Associated With a Bartter-like Syndrome

Suneja, Manish MD*; Dixon, Bradley S. MD

Author Information
The Endocrinologist 18(1):p 44-46, January 2008. | DOI: 10.1097/TEN.0b013e3181655544

Abstract

Background: 

Pseudohypoparathyroidism (PHP), a disorder characterized by end-organ resistance to parathyroid hormone is divided into types 1 a, b, and c and type 2. We describe a patient with the simultaneous presentation of PHP-1b and a Bartter-like syndrome.

Case Report: 

A young woman presenting with clinical and biochemical features of PHP-1b was found to have hypokalemic metabolic alkalosis and hypomagnesemia with renal potassium wasting, normal urinary calcium excretion, and elevated renin and aldosterone levels consistent with a Bartter-like syndrome.

Conclusion: 

This is the first case, to our knowledge, of a patient manifesting both PHP-1b and a Bartter-like syndrome. The coexistence of these 2 rare diseases in the same person could be a coincidence or it could suggest a new mutation that links the diseases.

© 2008 Lippincott Williams & Wilkins, Inc.

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