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Am J Kidney Dis. 2002 Jun;39(6):E24.

Infantile cystinosis presenting as chronic constipation.

Author information

  • 1Department of Pediatrics, Rush Presbyterian St. Luke's Medical Center, Rush University Medical College, Chicago, IL, USA. fassadi@rush.edu


An infant presented with persistent constipation as the first clinical symptom of cystinosis before evidence of renal Fanconi's syndrome. The history of muscle weakness, failure to thrive, polydipsia, and polyuria prompted subsequent clinical and laboratory evaluations, leading to the correct diagnosis of cystinosis. Primary and persistent constipation as an initial manifestation of cystinosis has not been reported previously. Although rare, cystinosis should be considered in the differential diagnosis of constipation if other suggestive signs or symptoms are present.

Copyright 2002 by the National Kidney Foundation, Inc.

[PubMed - indexed for MEDLINE]
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