孤立性甲状旁腺激素抵抗性假性甲状旁腺功能减退1b型：低钙血症的罕见病因。

Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia.

作者信息

Aggarwal A, Shah R, Mousa O, Patel A

机构信息

Department of internal medicine, State University of New York (SUNY) Upstate, New York, USA.

出版信息

JNMA J Nepal Med Assoc. 2016 Jul-Sep;55(203):33-35.

PMID:27935921

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.

摘要

报告了一例1b型假性甲状旁腺功能减退症患者，其表现出低钙血症的体征和症状。讨论了病因、诊断和管理，并对PHP中的新基因突变有了新的认识。目的是提供有关钙平衡问题、假性甲状旁腺功能减退症的病因和诊断、了解甲状旁腺激素细胞相互作用和钙稳态的复杂性以及了解各种类型PHP的基因新突变的信息。