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J Inherit Metab Dis. 2004;27(5):693-9.

Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature.

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Department of Pediatric Nephrology, Lucile Packard Children's Hospital, Stanford University Medical Center, Palo Alto, California, USA.


We report a case of portal hypertension and oesophageal varices arising in an 18-year-old female renal transplant recipient with juvenile nephropathic cystinosis diagnosed at 6 years of age. The patient had a history of poor compliance with her prescribed cysteamine therapy. Routine examination revealed normal liver function without hepatomegaly but asymptomatic splenomegaly. An abdominal ultrasound suggested mild oesophageal varices, confirmed later on endoscopy. A liver biopsy revealed an abundance of cystine crystals within the hepatic Kupffer cells, with preserved hepatic architecture. Although the pathophysiology of this rare complication is unclear, in the absence of other aetiologies the likely cause is the patient's poorly controlled cystinosis. As cystinotic patients live longer with improved renal transplant management and cysteamine therapy, it is of interest to characterize the long-term course of the illness after renal transplantation. An understanding of the pathophysiology of hepatic dysfunction will be required to manage this potential late complication of the disease.

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