Abstract
Summary: 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.
REFERENCES
Avner ED, Ellis D, Jaffe R (1982) Veno-occlusion disease of the liver associated with cysteamine treatment of nephropathic cystinosis. J Pediatr 102(5): 793–796.
Broyer M, Tete MJ, GublerMC (1987) Late symptoms in infantile cystinosis. PediatrNephrol 1(3): 519–524.
Gahl WA, Schulman JD, Thoene JG, Schneider J (1983) Hepatotoxicity of cysteamine? J Pediatr 103(6): 1008–1009.
Gahl WA, Schneider JA, Thoene JG, Chesney R (1986) Course of nephropathic cystinosis after age 10 years. J Pediatr 109(4): 605–608.
Gahl WA, Schneider JA, Thoene JG (2001) Cystinosis: a disorder of lysosomal membrane transport. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. TheMetabolic andMolecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 5096–5108.
Gahl WA, Schneider JA, Thoene JG (2002) Cystinosis. N Engl J Med 347(2): 111–121.
Klenn PJ, Rubin R (1994) Hepatic fibrosis associated with hereditary cystinosis: a novel form of noncirrhotic portal hypertension. Mod Pathol 7(8): 879–882.
Rockey D (1997) The cellular pathogenesis of portal hypertension: stellate cell contractility, endothelin, and nitric oxide. Hepatology 25(1): 2–5.
Rockey D (2001) Hepatic blood flow regulation by stellate cells in normal and injured liver. Semin Liver Dis 21(3): 337–349.
Scotto JM, Stralin HG (1997) Ultrastructure of the liver in a case of childhood cystinosis. Virchows Arch A Pathol Anat Histol 377(1): 43–48.
Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA (1993) Classic nephropathic cystinosis as an adult disease. JAMA 270(18): 2200–2204.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
DiDomenico, P., Berry, G., Bass, D. et al. Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: Case presentation and review of the literature. J Inherit Metab Dis 27, 693–699 (2004). https://doi.org/10.1023/B:BOLI.0000043028.97292.70
Issue Date:
DOI: https://doi.org/10.1023/B:BOLI.0000043028.97292.70