Asan Digestive Disease Research Institute, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
J Neurogastroenterol Motil. 2011 Apr;17(2):169-73. doi: 10.5056/jnm.2011.17.2.169. Epub 2011 Apr 27.
BACKGROUND/AIMS: ALADIN gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients has been known to show alacrima (decreased secretion of tear). However, the genetic mechanism between achalasia and alacrima has not been defined yet. We postulated that ALADIN gene may be involved in the occurrence of early-onset achalasia; thus, we investigated the correlation of ALADIN gene in early-onset achalasia patients.
From 1989 to 2007, patients who were diagnosed as primary achalasia before age 35 were enrolled. All of the enrolled patients were asked for (1) blood sampling for DNA, (2) Shirmer test and (3) dysphagia questionnaires.
The ALADIN gene in exon 1, 2, 10, 11 and 12 from 19 patients was investigated (M:F = 12:7). The mean age of patients at diagnosis was 27 ± 5 (15-35) years old. Eight out of 19 (42%) showed alacrima by the positive Shirmer test. In spite of thorough exam in the genetic study, there was no definite abnormal genetic finding in this study.
A considerable number of achalasia patients showed alacrima. Due to the limitation of this study, it is difficult to conclude that early-onset achalasia may have significant correlations with the ALADIN gene.
背景/目的：ALADIN 基因已被证实与贲门失弛缓症、眼干燥症、肾上腺异常和进行性神经系统综合征有关。相当一部分贲门失弛缓症患者表现出眼干燥症（泪液分泌减少）。然而，贲门失弛缓症和眼干燥症之间的遗传机制尚未明确。我们推测 ALADIN 基因可能与早发性贲门失弛缓症的发生有关；因此，我们研究了早发性贲门失弛缓症患者中 ALADIN 基因的相关性。
1989 年至 2007 年，我们纳入了年龄在 35 岁之前被诊断为原发性贲门失弛缓症的患者。所有入组患者均接受了（1）DNA 血样采集、（2）Schirmer 试验和（3）吞咽困难问卷调查。
我们研究了 19 名患者的 ALADIN 基因外显子 1、2、10、11 和 12（M:F=12:7）。患者的平均诊断年龄为 27±5（15-35）岁。19 名患者中有 8 名（42%）通过 Schirmer 试验呈阳性，表现为眼干燥症。尽管在基因研究中进行了彻底的检查，但本研究未发现明确的异常遗传发现。
相当一部分贲门失弛缓症患者表现出眼干燥症。由于本研究的局限性，尚难以得出早发性贲门失弛缓症与 ALADIN 基因有显著相关性的结论。
