假性甲状旁腺功能减退症的临床研究

Clinical diagnosis of pseudohypoparathyroidism:A report of ten cases

目的提高对假性甲状旁腺功能减退症的诊治率。方法回顾性分析我院1990年1月-2008年8月入院的10例假性甲状旁腺功能减退症患者的临床资料。结果10例患者就诊时病程长短不一(3d^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、高甲状旁腺激素血症。6例手足及全身骨骼平片提示异常,9例头颅CT提示多发颅内钙化灶,2例伴有AHO躯体畸形,4例合并甲状腺功能异常,2例合并低血钾。结论对于有手足搐溺、癫痫发作等病史的患者要进一步检查血钙、血磷及甲状旁腺激素水平,行头颅CT。用钙剂、维生素D能控制假性甲状旁腺功能减退症的症状。注意监测甲状腺功能,及时发现潜在的甲状腺功能异常,进行系统治疗。

Objective To improve the clinical diagnosis of pseudohypoparathyroidism （PHP）. Methods Clinical data obtained from 10 PHP patients admitted to our hospital from January 1990 to August 2008 were retrospectively reviewed. Results The hospital stay time of ten cases was from 3 days to 9 years. The disease occurred at a younger age. The patients had a history of tetany and epileptic attacks. Laboratory test suggested hypocaleemia, hyperphosphatemia, elevated parathyroid hormone （PTH） level. CT scan of head showed cranial calcifications in 9 out of the 10 patients. Plain film of skeleton showed abnormalities in 6 patients. Only two patients had Albright＇s hereditary osteodystropliy（AHO） deformity, a major feature of PHP. Four patients had abnormal thyroid function. Two patients had persistent hypokaleemia. At present, no specific therapy is available for PHP. Treatment with calcium and active form of vitamin D can effectively prevent active attack of PHP and limit the irreversible changes. Thyroxine substitufive therapy is needed when hypothyroidism occurs with PHP. Conclusion Calcium, phosphorus, and PTH should be detected in patients with reoccurrence of tetany, epileptic attacks and AHO deformity. Brain CT should be performed. Long-term use of calcium and vitamin D can control the symptoms of PHP. It is necessary to detect the thyroid function of patients with PHP for the early treatment of PHP.