假性甲状旁腺功能减退症临床诊治分析-内科学(内分泌与代谢病学)专业论文.docxVIP

浙江上学预i一堂位论立假性甲状旁腺功能减退症临床诊治分析 浙江上学预i一堂位论立 假性甲状旁腺功能减退症临床诊治分析 一一附2例病例及文献综述 浙江大学医学院 内科学(内分泌学) 200【级硕士研究生 会启辉 导师 谷卫 中文摘要 1．背景 假性甲状旁腺功能减退症是一种复杂的遗传性疾病，临床较少遇见。临床医 生对此症了解较少，有时难以确诊或容易误诊。 2．目的 探讨假性甲状旁腺功能减退症的发病机理，了解其诊断、临床表现及 治疗，提高对该疾病的认识。 3．资料和方法 回顾分析2例经临床和实验室证实的病例并文献复习。 4．结果 2例都有低血钙、高血浆PTH。1例高血磷、颅内基底节钙化、癫痫、 白内障。另L例有骨质疏松。 5．结论 假性甲状旁腺功能减退临床非常罕见。但根据实验室检查低血钙、高 血磷，甲状旁腺素(PTH)含量升高和x线特异表现，再结合PTH试验及 浙江火掌顺{：学位论上临床袁现可以确诊。 浙江火掌顺{：学位论上 临床袁现可以确诊。 关键词 假性甲：状旁腺功能减退症； G蛋白： 田状旁腺素 浙江人学顺j一学世论上Pseudohypoparathyroidism： 浙江人学顺j一学世论上 Pseudohypoparathyroidism： A Report Of two Cases With A Literature Review Medic￡il College．ZheJiang University internal medicine(endocrinology) Postgraduate j inqihui Supervisor guwei ABSTliiACT 1．Background Pseudohypoparathyroidism(PHP)is a complex heterogenous disease，and few to meet in clinic．Clinicians are know about it very little，result in hardly diagnose or err— Or 2．Objective To study the pathogenic mechanism of PHP，comprehend the diagnosis，cl— inical characteristics and treatment，thereby elevate cognition of PHP 3．Mcthods 2 patients with clinically and laboratorially proved PHP were retrospectl ively analyzed 4．Results Hypocalcemia and high plasma parathyroidism were found in two cases Hyperphosphatemia and basal ganglia calcification were observed in one case and intercurrent falling sickness and cataract．While Osteoporosis was seen in 浙；工人学颇t’堂垃沧上another 浙；工人学颇t’堂垃沧上 another case 5。Conelusion PHP is a very singular endocrine disease，but based on radiological diffe rential signs．clinical manifestions and laboratory findings，such as hypocalce- mia．hyperphosphatemia，increased PTH level．and combined with PTH experi‘ mentation The disease caJ]be correctly diagnosed Key words Pseudohypoparathyroidism： G protein Parathyroidism 浙江』=学顾卜学使论上假性甲状旁腺功能减退症临床诊治分析 浙江』=学顾卜学使论上 假性甲状旁腺功能减退症临床诊治分析 一一附2例病例及文献综述 假性甲状旁腺功能减退症(pseudohypoparathyroi di sm，简称假性甲 旁减，PSflP或PHP，或Seabri ght—Bantam综合征)，是一种少见的家族性 甲状旁腺疾病，；临床较少遇见。现将我院在2003年收治的2例PHP报告 如下。 l临床资料 例1，女，29岁，高中文化，待业，因“颜面及双足浮肿3月，加重 l周”入