Journal of Nepal Medical Association (Sep 2016)
Isolated PTH Renal Resistance Pseudo Hypo Parathyroidism 1b: A Rare Cause of Hypocalcemia
Abstract
A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia. Causes, diagnosis and management with new insight into genetic novel mutations in PHP are discussed. The objectives are to provide information regarding problems of Calcium balance, causes and making diagnosis of pseudohypoparathyroidism, learn complexities of PTH cellular interactions and calcium homeostasis and learn the genetic novel mutations of various types of PHP. Keywords: Hyperphosphatemia, hypocalcemia Isolated PTH resistance, Pseudohypoparathyroidism, Secondary hyperparathyroidism. | PubMed