本病是较为罕见的一种遗传性疾病,可能与环化一磷酸腺苷(C-AMP)的合成障碍导致肾曲小管及骨的靶器官(亦称靶细胞)对甲状旁腺激素无反应有关。因而具有甲状旁腺功能低下的临床表现及化验改变,但对甲状旁腺激素的治疗无反应。此外尚有发育异常的表现如矮小、肥胖、圆脸、短颈、斜视、掌蹠骨短小、甲状旁腺组织增生、智力障碍等。我们在本院门诊曾遇到一例,报告如下。 患者魏××女性,22岁,榆树县五棵树公社社员。因发育矮小、智力障碍于1978年4月来院就诊。其母称该患为足月顺产、第一胎,产后10～30天中曾有十余次口眼及一侧手抽动。3～15岁中每年均有十余次手及口眼抽动。12岁上学,读书四年,勉强跟上同班同学学 The disease is a rare genetic disorder that may be caused by the disorder of synthesis of cyclic adenosine monophosphate (C-AMP), which causes no response to parathyroid hormone in the target organs (also called target cells) of the renal tubule and bone related. Thus has the clinical manifestations of hypoparathyroidism and laboratory changes, but no response to the treatment of parathyroid hormone. In addition there are manifestations of dysplasia such as short stature, obesity, round face, short neck, strabismus, metatarsal short, parathyroid tissue hyperplasia, mental retardation. We have encountered a case in our clinic, the report is as follows. Wei × × female patients, aged 22, Yushu County, five trees commune members. Due to the development of short, mental retardation in April 1978 to the hospital. The mother said the affected full-term pregnancy, the first child, postpartum 10 to 30 days there have been more than 10 times mouth mouth and hand twitching. 3 to 15 years old every year more than ten times hands and mouth twitches. 12-year-old school, studying for four years, barely keep up with classmates learning