title: Alport's syndrome and achalasia.
abstract: A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry revealed a moderate bilateral high-tone sensorineural hearing loss. Bilateral anterior lenticonus and a unilateral cataract were also diagnosed. Achalasia diagnosed radiologically and confirmed by biopsy was corrected by surgery. Evaluations of the parents and three siblings were negative. The patient subsequently developed end-stage renal failure. This case report and a review of the literature suggest that achalasia may be part of Alport's syndrome in some patients.
authors.affiliation: Division of Pediatric Nephrology, UCLA School of Medicine.
authors.forename: H E
authors.initials: HE
authors.lastname: Leichter
authors.forename: J
authors.initials: J
authors.lastname: Vargas
authors.forename: A H
authors.initials: AH
authors.lastname: Cohen
authors.forename: M
authors.initials: M
authors.lastname: Ament
authors.forename: I B
authors.initials: IB
authors.lastname: Salusky
mesh_terms: D002648:Child; D004931:Esophageal Achalasia / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000175:diagnosis