Alport's syndrome and achalasia

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.