Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between 1960 and 1994 cystic fibrosis was found in nine out of 1474 infants investigated for neonatal cholestasis. Four had delay in passing meconium. In all patients cholestatic jaundice was present during the first 48 hours and in three patients cholestasis was complete, mimicking biliary atresia. Serum cholesterol concentrations were normal in all but two children. Sweat chloride was repeatedly above 95 mmol/l in all instances. Three children had another condition enhancing the risk of cholestasis (alpha1-antitrypsin deficiency, hypopituitarism, perinatal asphyxia, and total parenteral nutrition). Liver histology displayed portal fibrosis and inflammation with bile duct proliferation; mucous plugs in bile ducts were observed in only one patient. Only one child died from cirrhosis. These results indicate that cystic fibrosis is not a major cause of neonatal cholestasis. However early signs of intestinal obstruction and low concentrations of serum cholesterol may indicate cystic fibrosis, regardless of liver histology. Neonatal cholestasis has no prognostic value concerning evolution to cirrhosis.
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PMID:Neonatal cholestasis as the presenting feature in cystic fibrosis. 881 74

Neonatal cholestasis syndrome (NCS) in India has largely remained ignored. Three questions need to be addressed: (a) What is known about NCS in India (b) Where do we stand and (c) What needs to be done? Current data on etiology of NCS indicates that biliary atresia contributes to about 40% of all NCS cases. There is considerable delay in the referral of patients to appropriate centres for management. A delay of 120.8 +/- 60.5 days in biliary atresia and 65.9 +/- 39.2 days in neonatal hepatitis were documented. Biliary atresia cases need to be diagnosed and operated by eight weeks of age so as to have the best results. Delayed referral after 3 months of age, not only bring down the success rate considerably but also adversely affect the management with regard to surgical procedures, nutritional support, control of ascites and finally the cost. Cirrhosis rapidly develops in children with biliary atresia. At this stage the only option left is liver transplantation. An important obstacle in the care of infants with NCS is the misconception of jaundice in newborns. This needs to be handled at a professional level in the training of undergraduates and postgraduates and the lay public. Public awareness campaigns like "Yellow Alert" may be useful in this direction.
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PMID:Neonatal cholestasis syndrome: Indian scene. 1113 78

Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childhood (between 2 and 4 years of age) with developmental delay associated with progressive spastic paraparesis. Neonatal presentation is very uncommon with a poorly described outcome. Here, we discuss two cases of neonatal cholestasis as initial clinical presentation of hyperargininemia. In case 1, diagnosis was established at 2 months of age upon investigation of the etiology of cholestatic injury pattern and hepatosplenomegaly, and treatment was then initiated at when the patient was 3 months old. Unfortunately, the patient had progressive biliary cirrhosis to end-stage liver disease complicated with portal hypertension for which she underwent successful orthotopic liver transplant at 7 years of age. In case 2, hyperargininemia was identified through newborn screening and treatment was started when patient was 21 days old. Cholestasis was only identified in the patient's further evaluation and it resolved 2 weeks into treatment. The patient is currently 18 months old and her development and neurological examination remain unremarkable. Neonatal cholestasis as first presentation of hyperargininemia is rare, but this disorder should be included in the differential diagnosis of unexplained cholestasis in the neonate. In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease.
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PMID:Neonatal cholestasis: an uncommon presentation of hyperargininemia. 2122 17

Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.
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PMID:Alagille syndrome: an overview. 2252 Nov 20