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)

A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.
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PMID:'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ. 108 9

The use of animal models in the experimental production of liver diseases similar to those of man is still in its infancy. There is a need to discover new models more closely related to counterpart syndromes in man in the fields of hepatorenal syndrome, neonatal jaundice, Wilson's disease, cholelithiasis, viral hepatitis, biliary atresia, and cirrhosis, to mention only a few. With the continued indiscriminate inbreeding of companion animals as well as the planned inbreeding of laboratory animals, there is little doubt that many more will soon be available. The current availability of mutant rats and sheep with bilirubin transport defects has allowed for a better understanding of how organic anions are transported by the liver. Many other currently available experimental animal models herein briefly reviewed have been only superficially studied. It is the intent of this chapter to provide for post-doctoral students an appreciation for the many animal model systems available for experimental hepatic research.
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PMID:Experimental liver diseases. 110 63

Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
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PMID:[Alagille's syndrome in Cuba. A report of 9 cases]. 134 Aug 42

The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase. Deficiency of this enzyme has been reported to produce cholestatic liver disease with progressive cirrhosis. Treatment with chenodeoxycholic acid led to clinical and biochemical improvement in one patient. We report a further child with this disorder who presented with prolonged neonatal jaundice followed by symptoms of malabsorption of fat-soluble vitamins. Bile acid replacement therapy resulted in clinical and biochemical improvement; it was also possible to demonstrate improvement in the histological appearance of the liver biopsy 4 months after commencing treatment.
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PMID:3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology. 158 74

Using isoelectric focusing in polyacrylamide gel, alpha-1-antitrypsin phenotyping was carried out in 1,000 normal Nigerians and in 25 with hepatocellular carcinoma, 17 with cirrhosis of the liver and 193 with neonatal jaundice. The percentage frequency of the homozygous alpha-1-antitrypsin deficiency state (PiZZ) in the normal, healthy population was 0.2% compared with 4% in those with hepatoma, 5.9% in those with liver cirrhosis and 0.5% in those with neonatal jaundice. These findings suggest that alpha-1-antitrypsin deficiency may be a contributory factor in the pathogenesis of hepatocellular carcinoma and cirrhosis of the liver in Nigeria.
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PMID:Alpha-1-antitrypsin deficiency and liver diseases in Nigeria. 217 65

Orthotopic liver transplantation was performed in a 29-year-old woman because of increasing decompensation of HBs-antigen positive post-hepatitic cirrhosis. Postoperatively she developed a mild rejection reaction and diabetes mellitus. Thirteen months after the transplant she conceived twins. This high risk pregnancy was complicated by a febrile viral infection with purulent tracheobronchitis at 9 weeks and a threatened abortion at 11 weeks. At 33 weeks there was a sudden drop in haemoglobin due to a minor uterine rupture which necessitated cesarean section. The female infants--of development in keeping with the dates--showed no clinical or ultrasound evidence of any malformations. Apart from initial difficulties--asphyxia (second twin), fluctuating glucose and calcium levels, an episode of neonatal jaundice which required phototherapy, reluctance to suck and hypotonia--the further development of both twins proceeded normally. The maternal diabetes disappeared after delivery, HBs-antigen remained negative and the HBs-antibody titre rose. The patient has remained in good condition, both mentally and physically.
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PMID:[Twin pregnancy after liver transplantation]. 235 62

We describe a three-generation family in which five individuals have arteriohepatic dysplasia (Alagille syndrome) with striking differences in the degree of severity. Two sisters presented with neonatal jaundice, peripheral pulmonic stenosis, and characteristic facial appearance including a broad forehead, deep-set eyes, prominent nose, and pointed chin. One died at 5 years of cirrhosis with portal hypertension and the other at 18 months of congestive heart failure. Their asymptomatic 32-year-old mother and 35-year-old maternal aunt have a similar facial appearance, pulmonic stenosis, skeletal anomalies, and bilateral posterior embryotoxon. Neither has evidence of clinical liver disease. The maternal grandfather, who refused evaluation, has a similar appearance, a history of liver disease, and a heart murmur. Extreme intrafamilial variability has not been reported previously and most affected individuals described in the past have followed a benign course. The pattern of severity in this family suggests the possibility of a maternal factor augmenting the clinical expression in affected offspring. The skeletal anomalies and posterior embryotoxon are valuable signs in detecting asymptomatic but affected individuals who are at risk for having offspring with this potentially lethal condition.
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PMID:Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. 643 40

Quantitative analyses were performed on paediatric HIDA scans (EHIDA and DISIDA) to measure the flow rates of HIDA into and out of the liver. Analysis of the tracer outflow rate indicated that HIDA appeared to leave the liver even when there was complete biliary obstruction, implying 'leakage' from hepatocytes back into the blood. This potentially explains why a 'hepatogram' does not provide useful information about hepatic obstruction, whereas a renogram does yield useful information about renal outflow obstruction. In a small group of patients with no evidence of either hepatocellular disease or obstruction, the HIDA inflow rate into the liver was 0.003072 s(-1), which is similar to published colloid uptake rates in normal livers. This implies that although the two radiopharmaceuticals are taken up by different mechanisms, both mechanisms have a very similar extraction fraction. Patients with cirrhosis had a considerably reduced HIDA uptake rate (0.001072 s[-1]), and once again this was similar to colloid uptake from the blood in cirrhosis. Patients investigated for neonatal jaundice all showed reduced HIDA inflow, and this reduction was greatest (mean 0.000477 s[-1]) in those neonates whose jaundice was due to hepatocellular impairment. In biliary atresia, the HIDA rate was reduced to approximately 0.001040 s(-1), which was still considerably higher than the rate from patients with neonatal jaundice due to sufficient hepatocellular impairment to cause complete cholestasis.
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PMID:HIDA kinetics in children. 925 27

High-resolution real-time ultrasonography (US) serves as an important tool for differentiation of obstructive and nonobstructive causes of jaundice in infants and children, independent of liver function. Unconjugated hyperbilirubinemia occurs in approximately 60% of normal term infants and in 80% of preterm infants. Persistence of neonatal jaundice beyond 2 weeks of age demands US evaluation to differentiate between the three most common causes: hepatitis, biliary atresia, and choledochal cyst. In all three conditions, the hepatic echotexture is diffusely coarse and hyperechoic, but this appearance may be seen in a variety of hepatic inflammatory, obstructive, and metabolic processes. Thus, hepatic scintigraphy and at times percutaneous liver biopsy are necessary to narrow the differential diagnosis and to identify patients who require more invasive techniques (eg, intraoperative cholangiography). US is useful for demonstrating inspissated bile and biliary duct stones. In infants, stones are usually secondary to obstructive congenital anomalies of the biliary tract, total parenteral nutrition, furosemide treatment, phototherapy, dehydration, infection, hemolytic anemia, and short-gut syndrome, whereas in older children, stones are usually associated with sickle cell disease, bowel resection, hemolytic anemia, and choledochal cyst. Jaundice in infants and children may also be due to cirrhosis, benign strictures, and neoplastic processes.
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PMID:US approach to jaundice in infants and children. 1068 80

Extrahepatic biliary atresia (EHBA) is an uncommon condition presenting in the first few weeks of life. It has an incidence of 0. 5-1 per 10 000 live births and is the end result of a destructive inflammatory process involving the extrahepatic biliary system of unknown aetiology occurring in utero. The net result is neonatal jaundice due to bile stasis, with subsequent hepatocellular damage and cirrhosis. In the untreated, patient death is inevitable within 2 years. Precise diagnosis (or exclusion) of EHBA in the persistently jaundiced infant must be made urgently and major surgery (hepatic portoenterostomy: Kasai procedure) carried out as soon as possible, preferably before 6-8 weeks of age. This review is concerned with anaesthesia for correction of EHBA in 50 consecutive patients and also outlines the experience gained in the largest European centre for correction of EHBA where the number of cases now approaches 500.
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PMID:Anaesthesia, perioperative management and outcome of correction of extrahepatic biliary atresia in the infant: a review of 50 cases in the King's College Hospital series. 1111 90


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