title: Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Asan Digestive Disease Research Institute, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors: Kee Wook
authors: KW
authors: Jung
authors: In Ja
authors: IJ
authors: Yoon
authors: Do Hoon
authors: DH
authors: Kim
authors: Jun-Won
authors: JW
authors: Chung
authors: Kwi-Sook
authors: KS
authors: Choi
authors: Kee Don
authors: KD
authors: Choi
authors: Ho June
authors: HJ
authors: Song
authors: Gin Hyug
authors: GH
authors: Lee
authors: Seung-Jae
authors: SJ
authors: Myung
authors: Jin-Ho
authors: JH
authors: Kim
authors: Dhiraj
authors: D
authors: Maskey
authors: Myeung Ju
authors: MJ
authors: Kim
authors: Hwoon-Yong
authors: HY
authors: Jung
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