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Review
. 1988 Jul;2(3):312-4.
doi: 10.1007/BF00858684.

Alport's syndrome and achalasia

H E Leichter  1 , J Vargas, A H Cohen, M Ament, I B Salusky
Affiliations
Review

Alport's syndrome and achalasia

H E Leichter et al. Pediatr Nephrol. 1988 Jul.

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.

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