假性甲状旁腺功能减退症的诊治分析

目的 分析假性甲状旁腺功能减退症(PHP)的临床资料,探讨其早期诊断与治疗方法.方法 收集新疆医科大学第一附属医院及湘雅附二院内分泌科2001年1月-2010年6月临床确诊的5例PHP患者的临床资料,对患者的临床表现、实验室检查结果、诊断与治疗方法进行回顾性分析.结果 5例患者就诊时病程长短不一(2个月～9年),发病年龄轻,均有手足搐溺、多次癫痫发作病史,伴有四肢乏力.实验室检查提示低血钙、高血磷、高甲状旁腺激素(PTH)血症.5例手足、颅脑、全身骨骼X线平片提示多处软组织钙化灶.首诊2例有典型的手足搐溺,呈癫痫样大发作.2例有先天性发育异常,表现为Albright遗传性骨营养不良(AHO),躯体畸形:身材矮胖,圆脸、短颈,指(趾)粗短畸形,以第1、4、5指(趾)缩短最明显,掌骨短小(掌骨症阳性).目前本病尚无特效治疗方法,急性发作期主要予静脉注射钙剂和地西泮积极控制抽搐发作;非急性发作期需终生治疗,补充钙剂、维生素D制剂或其衍生物,减少高磷食品摄入.结论 PHP临床表现复杂多样,有手足搐溺、药物控制不良的癫痫发作病史者及AHO者等应尽早行血钙、血磷、血PTH、颅脑CT等检查,以便早诊断、早治疗.

Diagnosis and Treatment of Pseudohypoparathyroidism

Objective To analyze the clinical data of pseudohypoparathyroidism and to explore ways toward early diagnosis and treatment.Methods Clinical data of 5 pseudohypoparathyroidism cases hospitalized in the First Affiliated Hospital of Xinjiang Medical University and the Second Hospital of Xiangya between January 2001 and June 2010 were collected to conduct a retrospective analysis upon their clinical manifestations,lab results,imaging results,diagnostic methods and treatment methods.Results Different length of ...