假性甲状旁腺机能减退症4例临床分析

目的提高对假性甲状旁腺机能减退症(PHP)的认识、诊断及治疗。方法中国医科大学附属第一医院2007年4月至2008年4月对4例(男3例、女1例)因四肢麻木或间断抽搐为主诉的11~14岁患儿进行血钙、血磷、甲状旁腺激素(PTH)及头部CT等项检查，并进行综合分析。结果4例患儿中呈PHP典型面容和体态者2例、表型正常2例。4例血钙明显下降、血磷高、PTH水平高，补钙治疗不见好转。结论PHP是PTH受体缺陷性疾病，临床少见，当患儿出现四肢麻木及反复抽搐、血钙低时，无论表型是否正常都要想到本病。血钙低、血磷高、血PTH升高是诊断PHP的必要条件。

Pseudhypoparathyroidism of 4 cases and review of literature

ObjectiveTo improve the level of recognization,diagnosis and treatment of pseudohypoparathyroidism (PHP).MethodsFour patients were selected,aged between 11 ~ 14 years old,3 boys and 1 girl,chief complaints with numbness of four limbs or discontious convulsion.Measured the blood calcium，serum inorganic phosphorus,serum parathyroid hormone (PTH) and reply slip of head CT for analysis.ResultsTwo cases had typical facies and stature of PHP,the other 2 cases manifested normal phenotype,and the blood calcium decreased,while serum inorganic phosphorus and the PTH increased in all 4 patients.The treatment of calcium complement didn’t make any effect on the 4 patients.ConclusionPHP is a disease of abnormal PTH receptor.The patients of PHP are not often encountered.When the patients have the syndrome of numbness in four limbs or repetitious convulsion and the blood calcium decreases,we should consider PHP.So blood calcium decrease，serum inorganic phosphorus increase,and the PTH increase are the necessary factors of diagnosing PHP.