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 lecks. 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.