假性甲状旁腺功能减退症3例临床分析及文献复习

发布时间：2018-07-25 21:05

【摘要】：目的分析假性甲状旁腺功能减退症临床症状,探讨其临床特点及相关文献复习。方法收集1998年1月至2014年10月在福建省立医院临床及实验室确诊的3例假性甲状旁腺功能减退症患者的临床资料,分析其临床表现及特点、实验室检查和影像学特点、诊断要点及治疗原则等,采用统计学方法进行回顾性分析,并作相应文献复习。结果3例病患中,男2例女1例;年龄23、26、27岁,病程2、12、23年,其中3例均有典型的手足抽搐,合并臀肌痉挛1例,合并颜面抽搐1例;肌肉酸痛1例,气促、水肿1例。嗜睡懒言1例;发育迟缓1例;1例有先天发育异常,表现为Albright遗传性骨营养不良征(Albrighthereditaryosteodystrophy,AHO)身体畸形:粗短身材、盾牌胸、圆脸、颈短、指(趾)粗短畸形,以第4、5指(跖)骨缩短、畸形最明显;白内障1例,束臂加压实验阳性1例。4例均有低血钙,高血磷,高PTH血症。关节X片1例提示双手第4、5掌骨头部较宽,骺线闭合,不均匀变短。头颅CT检查1例。颅脑MRI提示双侧基底节区有钙化改变1例。合并甲减1例。脑电图异常1例。1例患者行基因测序检查,结果外显子1A的甲基化缺失被发现存在患者基因上,考虑为母系等位基因印记缺陷。结论假性甲状旁腺功能减退症为临床罕见的遗传病,目前考虑与GNAS1基因变异相关,研究发现为X染色体显性遗传,亦可为常染色体显性或隐形遗传。临床病人表现复杂多样,误诊率高,当患者被发现有药物控制不佳的反复手足抽搐、类似癫痫样发作和(或)Albright遗传性骨营养不良症者,血尿钙磷、血甲状旁腺激素(PTH)及头颅影像学等检查应及时行,可以尽早确诊,基因检查可进一步应用于有条件者。目前该病尚无特殊治疗手段,饮食上需减少高磷食品摄入可缓解症状、急性发作期手足抽搐主要予静脉注射钙剂、安定药物等对症治疗控制抽搐发作,需终生补充钙剂、维生素D制剂或其衍生物于非急性发作期,阻止病情进一步进展。
[Abstract]:Objective to analyze the clinical symptoms of pseudoparathyroidism and to discuss its clinical features and literature review. Methods from January 1998 to October 2014, the clinical data of 3 patients with pseudotyroidism diagnosed in Fujian Provincial Hospital from January 1998 to October 2014 were collected, and the clinical manifestations and characteristics, laboratory examination and imaging features were analyzed. The diagnosis and treatment principles were analyzed retrospectively by statistical method, and the corresponding literatures were reviewed. Results among the 3 patients, 2 cases were male and 1 female, aged 232627 years, the course of disease was 212,23 years. Among them, 3 cases had typical spasm of hand and foot, 1 case with gluteal spasm, 1 case with facial convulsion, 1 case with muscular soreness, 1 case with shortness of breath and 1 case with edema. There were 1 case of lethargy, 1 case of growth retardation and 1 case of congenital dysplasia, which was characterized by Albright hereditary osteodystrophy (Albright): short stature, shield chest, round face, short neck, short finger (toe), shortening of the 45th finger (metatarsal) bone, The deformity was most obvious in 1 case with cataract and 1 case with positive bundle arm pressure test in which 4 cases had hypocalcemia, high blood phosphorus and high PTH. X-ray showed that the metacarpal head of the fifth metacarpal bone of the hands was wider, the epiphyseal line was closed, and the metacarpal line was not evenly shortened. Cranial CT examination in 1 case. Craniocerebral MRI showed calcification in bilateral basal ganglia in 1 case. One case was complicated with hypothyroidism. Gene sequencing was performed in 1 case with abnormal EEG. Results the methylation deletion of exon 1A was found to exist on the patient's gene and was considered to be a defect of maternal allele imprinting. Conclusion pseudo parathyroid hypothyroidism is a rare hereditary disease in clinic. At present, it is considered to be related to the variation of GNAS1 gene. It is found that pseudoparathyroidism is an X chromosome dominant inheritance or an autosomal dominant or invisible inheritance. The clinical manifestations were complex and varied, and the misdiagnosis rate was high. When the patient was found to have repeatedly convulsions of the hand and foot, similar to epileptic seizures and / or Albright hereditary bone dystrophy, the patient was found to have calcium and phosphorus in the blood. Parathyroid hormone (PTH) and head imaging examination should be performed in time and can be diagnosed as soon as possible. At present, there is no special treatment for the disease. The diet needs to reduce the intake of high-phosphorus food to relieve symptoms. During acute seizures, the hand and foot convulsions are mainly treated with intravenous calcium, tranquilizers, and other symptomatic treatments to control convulsions. They need a life-long supplement of calcium. Vitamin D preparations or their derivatives are nonacute and prevent further progression.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R582.2

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