无汗

X染色体倒位伴X连锁无汗性外胚叶发育不良一个家系的产前诊断

Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion

无汗性外胚层发育不全患者EDA基因突变检测

Gene mutation detection for a patient with anhidrotic ectodermal dysplasia

目的：检测无汗性外胚层发育不全患者的EDA基因的突变。

Objetive : To detect the gene mutation of a patient with anhidrotic ectodermal dysplasia .

目的探讨对X连锁无汗性外胚叶发育不良（EDA）家系的EDA患胎进行产前诊断的可能性，为建立对该病的产前诊断及遗传咨询提供依据。

Objective To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia ( EDA ) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder .

报道了无汗性外胚叶发育不全（EDA）一家系，患者既有男性，又有女性，男女比例接近1∶1，属常染色体显性遗传。

A family with anhidrotic ectodermal dysplasia ( AED ) is reported . There were 8 male and 6 female patients in the family , and the male to female ratio was approximately 1 ∶ 1 and the condition belonged to autosomal dominant inheritance .

CIPA患者感受不到疼痛，是因为先天性无痛无汗症基因突变，不能及时控制体温是由于他们不能排汗。

Since people with CIPA have mutations in the gene , they feel no pain and have constant trouble controlling their body 's temperature because they are unable to sweat .

无汗性外胚层发育不良伴特发性角膜穿孔和圆锥角膜的病例

Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus

报告1例无汗性外胚叶发育不良伴巨大型环状肉芽肿。

This article reports a case of anhidrotic ectodermal dysplasia associated with giant type granuloma annulare .

目的分析无汗性外胚叶发育不全的遗传类型和临床特点。

Objective To analyze genetic types and clinical features with anhidrotic ectodermal dysplasia ( EDA ) .

一周见效，随访一年，全身无汗症状消失，皮肤恢复正常。

This child started to sweat and his skin became normal after followed up for one year .

方法采用临床检查和家系调查的方法，对5个无汗性外胚叶发育不全家系共计35例患者进行遗传类型和临床表现分析。

Methods The genetic types and clinical manifestations of35 patients with EDA in five families were analyzed by genealogical investigation and clinical examination .

该疾病的典型临床表现为少汗或无汗，毛发稀疏或全无，牙齿缺如或牙齿形态异常等三联症状。

Its characteristic clinical manifestations ( triple-symptom complex ) include hypohidrosis or anhidrosis , sparse hair or hairlessness and dental absence or paramorphia .

当皮肤干燥无汗，外出大约30分钟前前涂抹防晒霜。

Instead , apply sunscreen to dry skin when you 're indoors roughly 30 minutes before you plan to be in the sun .

目的研究托吡酯治疗儿童癫疒间时出现的泌汗障碍（少汗或无汗）及其对策。

Objective To study perspiration disorder ( hyporidrosis or adiaphoresis ) in the course of treating epilepsy by topiramate ( TPM ) in children and the countermeasures .

结论：临床用于感冒、高热、哮喘、无汗症、急性肾炎、过敏性鼻炎等多科疾病，且取得了良好地治疗效果。

Conclusion : It could be applied clinically to cure several diseases such as cold , fever , asthma , anhidrosis , acute nephritis , allergic rhinitis , etc. , and get good effect .

全身症状有恶寒颤栗，无汗身痛，关节酸痛，腹痛拘急，舌淡红，苔薄白。

Systemic symptom has tremble of aversion to cold , the body that do not have sweat is painful , articulatory ache , bellyache arrest is urgent , the tongue is reddish , liver mosses Bao Bai .

如果发现有人严重缺水，一定要立即拨打急救电话。严重脱水的症状包括极度口渴，嘴巴和其他部位非常干燥，性格改变，无汗，尿少或无尿。

Call 911 if a victim appears to be suffering from severe dehydration , which includes symptoms like extreme thirst , a very dry mouth and other membranes , a change in personality , a lack of sweating , and infrequency or cessation of urination .