Triple A syndrome: genotype-phenotype assessment
Triple A syndrome: genotype-phenotype assessment
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DOI：
10.1034/j.1399-0004.2003.00070.x
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发表时间：
2003-05-01
影响因子：
3.5
通讯作者：
Pavletic, M
中科院分区：
文献类型：
--
作者：
Prpic, I;Huebner, A;Pavletic, M
Allgrove综合征是一种常染色体隐性遗传病（MIM*231550），以失弛缓症、白化症和促肾上腺皮质激素（ACTH）抵抗性肾上腺功能不全为特征。该综合征的相关特征是神经和皮肤异常。在发现AAAS基因是aaa综合征的致病基因之前，诊断是基于特征性的临床特征。在这里，我们提出的临床和分子遗传数据，证明了显着的表型变异性在三个无关的患者与aaa综合征。经分子分析，最终确诊为aaa综合征。在1例孤立性贲门失弛缓症患者中，只能通过AAAS基因的分子遗传学分析来诊断aaa综合征。因此，我们建议，在仅表现出一种或两种主要症状（即泪斑、贲门失弛缓或肾上腺功能不全）的患者中，应考虑诊断为aaa综合征。这些患者需要仔细的神经学调查，并应进行AAAS基因的突变分析。
The triple A or Allgrove syndrome is an autosomal-recessive disease (MIM*231550) characterized by the triad of achalasia, alacrima and adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency. Associated features of the syndrome are neurological and dermatological abnormalities. Until the discovery of the AAAS gene as the responsible gene in triple A syndrome, the diagnosis was based on characteristic clinical features. Here we present the clinical and molecular genetic data which demonstrated the marked phenotypic variability in three unrelated patients with triple A syndrome. The final diagnosis of triple A syndrome was confirmed by molecular analysis. In one patient with isolated achalasia, the diagnosis of triple A syndrome could only be made on the basis of the molecular genetic analysis of the AAAS gene. We therefore suggest that the diagnosis of triple A syndrome should be considered in patients who exhibit only one or two of the main symptoms (i.e. alacrima, achalasia or adrenal insufficiency). These patients require careful neurological investigation, and mutation analysis of the AAAS gene should be performed.