【摘要】：目的分析假性甲狀旁腺功能減退癥臨床癥狀,探討其臨床特點(diǎn)及相關(guān)文獻(xiàn)復(fù)習(xí)。方法收集1998年1月至2014年10月在福建省立醫(yī)院臨床及實(shí)驗(yàn)室確診的3例假性甲狀旁腺功能減退癥患者的臨床資料,分析其臨床表現(xiàn)及特點(diǎn)、實(shí)驗(yàn)室檢查和影像學(xué)特點(diǎn)、診斷要點(diǎn)及治療原則等,采用統(tǒng)計(jì)學(xué)方法進(jìn)行回顧性分析,并作相應(yīng)文獻(xiàn)復(fù)習(xí)。結(jié)果3例病患中,男2例女1例;年齡23、26、27歲,病程2、12、23年,其中3例均有典型的手足抽搐,合并臀肌痙攣1例,合并顏面抽搐1例;肌肉酸痛1例,氣促、水腫1例。嗜睡懶言1例;發(fā)育遲緩1例;1例有先天發(fā)育異常,表現(xiàn)為Albright遺傳性骨營(yíng)養(yǎng)不良征(Albrighthereditaryosteodystrophy,AHO)身體畸形:粗短身材、盾牌胸、圓臉、頸短、指(趾)粗短畸形,以第4、5指(跖)骨縮短、畸形最明顯;白內(nèi)障1例,束臂加壓實(shí)驗(yàn)陽(yáng)性1例。4例均有低血鈣,高血磷,高PTH血癥。關(guān)節(jié)X片1例提示雙手第4、5掌骨頭部較寬,骺線閉合,不均勻變短。頭顱CT檢查1例。顱腦MRI提示雙側(cè)基底節(jié)區(qū)有鈣化改變1例。合并甲減1例。腦電圖異常1例。1例患者行基因測(cè)序檢查,結(jié)果外顯子1A的甲基化缺失被發(fā)現(xiàn)存在患者基因上,考慮為母系等位基因印記缺陷。結(jié)論假性甲狀旁腺功能減退癥為臨床罕見(jiàn)的遺傳病,目前考慮與GNAS1基因變異相關(guān),研究發(fā)現(xiàn)為X染色體顯性遺傳,亦可為常染色體顯性或隱形遺傳。臨床病人表現(xiàn)復(fù)雜多樣,誤診率高,當(dāng)患者被發(fā)現(xiàn)有藥物控制不佳的反復(fù)手足抽搐、類(lèi)似癲癇樣發(fā)作和(或)Albright遺傳性骨營(yíng)養(yǎng)不良癥者,血尿鈣磷、血甲狀旁腺激素(PTH)及頭顱影像學(xué)等檢查應(yīng)及時(shí)行,可以盡早確診,基因檢查可進(jìn)一步應(yīng)用于有條件者。目前該病尚無(wú)特殊治療手段,飲食上需減少高磷食品攝入可緩解癥狀、急性發(fā)作期手足抽搐主要予靜脈注射鈣劑、安定藥物等對(duì)癥治療控制抽搐發(fā)作,需終生補(bǔ)充鈣劑、維生素D制劑或其衍生物于非急性發(fā)作期,阻止病情進(jìn)一步進(jìn)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.
【學(xué)位授予單位】：福建醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2015
【分類(lèi)號(hào)】：R582.2

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