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)

Hepatomegaly and steatosis are common findings in children with cystic fibrosis and are most often attributed to malnutrition. An infant fed a carnitine-free soy formula is described. Massive hepatomegaly and steatosis developed in the baby at a time of severe viral respiratory illness, prolonged fasting, hypoglycemia, and hypoketonuria. The infant was found to have secondary plasma carnitine deficiency and excessive loss of carnitine in the urine as part of a more generalized renal tubular dysfunction accompanying vitamin D deficiency and secondary hyperparathyroidism. With correction of the metabolic abnormalities and institution of a high carnitine diet, the hepatomegaly disappeared, plasma carnitine returned to normal levels, and the renal carnitine loss ceased. The findings suggest that secondary carnitine deficiency may play a role in fatty infiltration of the liver in patients with cystic fibrosis, especially during times of severe fasting stress.
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PMID:Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis. 202 May 30

The clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile ducts are described. All presented in the first 5 months of life, 21 with jaundice, two with spontaneous bleeding due to vitamin K malabsorption in addition to jaundice, two with pruritus, and two with failure to thrive. Interlobular bile ducts were abundant in liver biopsies from five (18% of cases) in the first 6 months of life. The degree of portal fibrosis and cellular infiltrate was mild in all except three patients. Clinically significant heart lesions occurred in 52% but only 22% had peripheral pulmonary stenosis. Characteristic facial appearances were present in only 70%; embryotoxon and vertebral anomalies were present in 56 and 33%, respectively. Two infants died of cardiovascular complications, one of alimentary bleeding and one of progressive liver disease. Complications of vitamin K deficiency occurred in 15%, vitamin D deficiency in 30%, and vitamin E deficiency in 37%. Survivors at ages of 19 months to 16.5 years had considerable morbidity with pruritus occurring in 70%, jaundice in 48%, xanthomas in 30%, 74% having hepatomegaly and 63% splenomegaly. All had abnormal biochemical tests of liver function, 90% had growth retardation, and 50% developmental delay. We conclude that differentiation from extrahepatic biliary atresia can be difficult if biliary flow cannot be demonstrated. Prevention of fat-soluble vitamin deficiency is essential. Further research is required to decrease the morbidity associated with this syndrome in infancy.
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PMID:Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. 368 72