Prpic I, Huebner A, Persic M, Handschug K, Pavletic M
Department of Pediatrics 'KANTRIDA', University Hospital Center Rijeka, Rijeka, Croatia.
Clin Genet. 2003 May;63(5):415-7. doi: 10.1034/j.1399-0004.2003.00070.x.
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.
三A综合征或奥尔格罗夫综合征是一种常染色体隐性疾病（MIM*231550），其特征为贲门失弛缓症、无泪症和促肾上腺皮质激素（ACTH）抵抗性肾上腺功能不全三联征。该综合征的相关特征包括神经和皮肤异常。在发现AAAS基因是三A综合征的致病基因之前，诊断基于特征性临床特征。在此，我们展示了临床和分子遗传学数据，这些数据表明三名无关的三A综合征患者存在显著的表型变异性。通过分子分析确诊了三A综合征。在一名仅患有孤立性贲门失弛缓症的患者中，仅基于AAAS基因的分子遗传学分析才得以做出三A综合征的诊断。因此，我们建议对于仅表现出一两种主要症状（即无泪症、贲门失弛缓症或肾上腺功能不全）的患者应考虑三A综合征的诊断。这些患者需要进行仔细的神经学检查，并应进行AAAS基因检测。
