Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We identified 80 patients with nephropathic cystinosis older than age 10 years in the United States and Canada. The oldest reported individual was 26 years of age. Ninety percent of patients had received at least one renal allograft. Age at the time of first transplant varied between 7 and 17 years (mean 10.0 years). Almost three fourths of the patients required thyroid replacement, 27% had splenomegaly, and 42% had hepatomegaly. Photophobia was noted in 86% of patients, decreased visual acuity in 32%, and corneal ulcerations in 15%. Neurologic involvement, renal osteodystrophy, and diabetes mellitus were unusual. All these late complications of nephropathic cystinosis contribute to a description of the natural history of the disease and provide a rationale for the therapeutic use of cystine-depleting agents after renal transplantation.
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PMID:Course of nephropathic cystinosis after age 10 years. 353 50

Hepatomegaly is a common feature of hereditary nephropathic cystinosis but is rarely associated with symptoms of liver disease. Aside from cystine crystal deposit within Kupffer cells, the cause of liver enlargement is unknown. We report the case of a patient with nephropathic cystinosis who died at the age of 24 yr after multiple renal transplants. In addition to classical systemic signs of advanced cystinosis, the patient had evidence of portal hypertension. At autopsy, the liver was enlarged for body size (1520 g) and very firm. Massive crystal accumulation within Kuppfer cells was accompanied by intense sinusoidal deposition of collagen types I, III, and IV, with associated hepatocyte atrophy. There was no inflammation or regenerative nodules. Numerous enlarged and fat-laden Ito cells were present in association with the collagen. This case illustrates a novel form of noncirrhotic portal hypertension associated with cystinosis. Analysis of future cases may serve to highlight the role of Kupffer and Ito cells in the pathogenesis of hepatic fibrosis.
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PMID:Hepatic fibrosis associated with hereditary cystinosis: a novel form of noncirrhotic portal hypertension. 783 43

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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PMID:Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. 1566 88