Korean J Gastrointest Endosc > Volume 22(2); 2001 > Article

Korean Journal of Gastrointestinal Endoscopy 2001;22(2): 96-100.

증례 : Alport 증후군의 미만성 식도 평활근종증에 의하여 병발된 이차성 Achalasia 1예 ( A Case of Secondary Achalasia Presented by Diffuse Leiomyomatosis of Alport Syndrome )

소정은(Joung Eun Soh),장영운(Young Woon Chang),김범식(Bum Shik Kim),이동근(Dong Keun Lee),한요셉(Yo Seb Han),동석호(Seok Ho Dong),김효종(Hyo Jong Kim),김병호(Byung Ho Kim),이정일(Joung Il Lee),박주철(Joo Chul Park),장린(Rin Chang)

Abstract

Alport syndrome (AS) is one of the most common familial nephropathy characterized by microscopic hematuria with or without proteinuria, irregular thickening or thinning of the glomerular basement membrane, progressive bilateral sensorineural hearing loss and ocular changes including anterior lenticonus and retinal flecks. AS with diffuse leiomyomatosis (ASDL) is defined by the association of AS with esophageal, tracheobronchial, and genital leiomyomatosis. Since the first case of ASDL was reported in 1983, a number of cases have been reported in the western countries. ASDL has a X-linked dominant trait with different penetrance and expressivity between female and male. We experienced an ASDL who is the first case in Korea. A 13-year-old boy was diagnosed as AS by microscopic hematuria, sensorineural hearing loss and congenital cataract. And also he had suffered from achalasia symptoms such as severe dysphagia and frequent vomiting due to diffuse esophageal leiomyomatosis. The lesion was confirmed by total esophagectomy and pathologic findings, (Korean J Gastrointest Endosc 2001;22:96 - 100)