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)

Biliary bile acid composition and pattern of bile acid conjugation with glycine or taurine were found to be within normal limits in six patients with documented Wilson's disease. Four patients had previous biopsy evidence of cirrhosis (three with active hepatitis), but most conventional liver function tests gave normal results at the time of the study. Serum levels of conjugates of cholic acid, measured by radioimmunoassay, were not increased. However, plasma disappearance if intravenously injected glycine conjugate of cholic acid was significantly delayed in all subjects, suggesting that this is a more sensitive test of hepatic excretory function and may be of value for assessing hepatic function in patients with this rare genetic disorder. No evidence of a primary disturbance in bile acid metabolism was found in these patients.
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PMID:Biliary bile acid composition in Wilson's disease. 112 89

Primary hemochromatosis is a common genetic disorder that results in inappropriate iron absorption and storage, with progressive damage to target organs. Hepatic cirrhosis and hepatocellular carcinoma are sequelae of hemochromatosis which are potentially preventable. The diagnosis may be suspected prior to target organ damage by appropriate screening tests, and is confirmed by liver biopsy. Three cases of hemochromatosis in the precirrhotic stage of the disease are presented. The pathophysiology, clinical and laboratory features and management are discussed. The high gene frequency in the general population warrants routine screening tests in asymptomatic healthy young adults. Phlebotomy is the indicated treatment for all stages of the disease.
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PMID:Diagnosis and management of precirrhotic hemochromatosis. 215 80

A clinicopathologic study of congenital hepatic fibrosis in 21 patients confirms a strong association with autosomal recessive renal polycystic disease. The liver specimens were subclassified into two groups according to the severity of fibrosis, showing typical hepatic abnormalities in young infants (mean age 0.3 years) and increased hepatic fibrosis in older patients (mean age 19.6 yr) (p less than 0.02). Apparent progression to perilobular fibrosis with parenchymal nodularity occasionally resembled cirrhosis when the nodules had a regenerative appearance because of rounded contours and inapparent central veins. Progression of fibrosis was observed in second biopsy specimens from 2 cases, but not in that of a 3rd, suggesting that factors other than the heritable disorder itself may be responsible for evolving morphology. Identifiable factors that may have contributed to increased fibrosis included localized intrahepatic biliary obstruction and biliary sepsis with suppuration. A factor possibly contributing to the pathogenesis of biliary sepsis was intrahepatic biliary ectasia, i.e., Caroli's disease, which appears to be one morphologic expression of CHF. This study shows that the hepatic abnormality evolves over time and that it may be altered by secondary complications.
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PMID:Congenital hepatic fibrosis: evolving morphology. 322 22

Mucoviscidosis (cystic fibrosis of the pancreas) is the most frequent lethal genetic disorder in the white race. It is an autosomal recessive transmission. In spite of its recent localisation on the 7th chromosome, the fundamental mechanism responsible for the symptoms remains unknown and it is still a syndrome more than a disease. It presents as a generalised seromucous exocrinopathy. The serous glands are functionally abnormal and have secretions too rich in chloride which allows for the sweat test (the only test of diagnostic value). The accumulation of abnormal mucous secretions is responsible for the clinical manifestations: intestinal troubles, bronchial and pulmonary disease, progressive pancreatic insufficiency and biliary cirrhosis. Mucoviscidosis is not longer a disease exclusively of children. The treatment which is solely symptomatic has profoundly changed the prognosis. Half of the children afflicted become adults. This fact and the better condition of diagnosis explain the appearance of a new symptomatology sometimes with a late presentation. On the basis of the genetic and prognostic implications one should consider the diagnosis at any age even if the general state is well conserved. The diagnosis rests on the association of suggestive symptoms and a disturbed sweat test. In the adult the presenting signs are always respiratory, more rarely digestive, and sometimes sterility. These associations are very suggestive. The current evolution requires a specific clinical management of new adult cases who, even if not in a very good clinical state, maintains a vital hope for several years with symptomatic treatment (and the hope perhaps that the discovery of the fundamental defect will lead to more specific therapy).
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PMID:[Mucoviscidosis: a genetic disease of adulthood]. 336 33

Primary hemochromatosis is a genetic disorder rarely recognized in childhood; its long-term consequences include cirrhosis and liver cancer. We report a family with primary hemochromatosis affecting three generations, including a 7-year-old child and a 29-month-old child; these are the youngest children with primary hemochromatosis yet reported. The pathophysiology, genetics, and clinical findings of this disorder are reviewed. Serum ferritin and transferrin saturation are useful screening tests; definitive diagnosis, however, depends on determination of hepatic iron content. A plan for evaluating and treating affected patients is proposed. Physicians caring for children must learn to recognize this potentially treatable disorder.
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PMID:Primary hemochromatosis in childhood. 365 74

The clinical pattern and the pathophysiological mechanism of the hereditary disorder alpha 1-antitrypsin deficiency are outlined. It appeared that the patient described suffered not only from emphysema, cirrhosis of the liver and hepatocellular carcinoma, but also from acute haemorrhagic pancreatitis. The combination of acute pancreatitis and alpha 1-antitrypsin deficiency has not been described before. Screening of relatives is important because of possible treatment.
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PMID:[Acute pancreatitis in a patient with alpha 1-antitrypsin deficiency. Is there a causal relationship?]. 841 21

Tyrosinemia, a genetic disorder of the liver and kidneys, is caused by reduced activity of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. The consequent presence of succinylacetone in urine or blood is pathognomonic of tyrosinemia and is used as a confirmatory test in the Quebec neonaral screening program. Due to a complex founder effect, the province of Quebec has an unusually high prevalence of tyrosinemia, particularly in the Saguenay-Lac Saint-Jean region (where the prevalence is 1 in 1850). Tyrosinemia has several different clinical presentations, ranging from acute liver failure with severe coagulopathy early in life, to slowly progressing cirrhosis with multiple nodules and variable renal dysfunction, to normal liver function with renal failure. Hepatocarcinoma has been found in approximately one third of cases. FAH complementary DNA has been cloned and mapped to chromosome 15q23-q25. The mutation observed in Quebec is a splice mutation at intron 12. This mutation is common and has been observed in other areas of the world as well, although more than 20 mutations causing tyrosinemia have now been described. Liver transplantation remains the definitive treatment. The author's team has carried out 28 liver transplantations (including 2 combined liver-kidney transplantations) in 25 children. The overall survival rate has been 92%; two children died as a result of primary nonfunction. The primary indications for transplantation were hepatic nodules (in 14 cases), neurological crises (6) and hepatic (3) or renal failure (2). An abnormal glomerular filtration rate (GFR) of less than 80 mL/min per 1.73 m2 was documented before transplantation in 54% of the cases. The rate normalized after liver transplantation in most patients, with rapid improvement in tubular function. However, patients with a severely low rate (less than 55 mL/min per 1.73 m2) before transplantation still had borderline renal function and poor growth after the transplantion, despite normal liver function. Therefore, for children with a consistently low GFR, careful consideration should be given to performing a combined liver-kidney transplantation, and a renal biopsy should form part of the pretransplantation evaluation.
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PMID:Tyrosinemia: the Quebec experience. 888 68

Approximately 1.5 million persons in the United States are affected by iron overload diseases, which are primarily caused by hereditary hemochromatosis--the most common genetic disorder in the United States. Hereditary hemochromatosis is characterized by increased iron absorption in the gastrointestinal tract, which may cause lifelong excessive iron absorption and accumulation and serious health effects, including arthritis, cirrhosis, diabetes, impotence, heart failure, and death. Hereditary hemochromatosis is an autosomal recessive disease; the estimated prevalence of the homozygous genotype is 1:200 - 1:250 persons, and 10% of persons are carriers. Although the disease was previously believed to affect primarily white males of northern European descent, recent data indicate hereditary hemochromatosis also occurs among blacks. Moreover, iron overload diseases are underdiagnosed among whites and may not be considered in other racial/ethnic groups (e.g., Hispanics) even when compatible symptoms and clinical findings are present. As part of a joint demonstration project during August-October 1995 to determine the overall prevalence of iron overload, CDC reviewed data from a health-maintenance organization (HMO) in San Diego, California; the prevalence among Hispanics appeared similar to that for non-Hispanic whites. This report presents the preliminary findings of an analysis of the prevalence of iron overload among Hispanics and compares these findings with nationally representative data from the Third National Health and Nutrition Examination Survey (NHANES III). These findings indicate that the prevalence of possible iron overload among Hispanic clients of the HMO based on initial screening was consistent with the nationwide prevalence of possible iron overload based on a single screening test for Hispanics of Mexican descent and non-Hispanic whites.
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PMID:Iron overload disorders among Hispanics--San Diego, California, 1995. 900 7

Hereditary hemochromatosis (HHC) is an inherited disease transmitted in an autosomal recessive pattern. With homozygosity occurring in up to 0.5% of the population, HHC is the most prevalent genetic disease among the white population worldwide and has the same prevalence as the sickle cell trait in the African-American population. An asymptomatic 50-year-old white man presented at the family practice clinic and stated that HHC had been diagnosed in his mother. Laboratory findings showed markedly elevated transferrin saturation and ferritin levels. The diagnosis of HHC was made on the basis of the laboratory results and family history, and therapy was begun. Clinical manifestations of HHC occur late and include diabetes mellitus, cirrhosis, and cardiomyopathy. As end-organ damage is preventable, optimal management involves early diagnosis and lifelong phlebotomy. Diagnosis is made by an elevated transferrin saturation level and an increased serum ferritin value. Hereditary hemochromatosis is a genetic disorder of iron metabolism that has an excellent prognosis if diagnosed early.
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PMID:Hereditary hemochromatosis. 907 Dec 52

alpha 1-Antitrypsin (AAT) deficiency, also known as alpha 1-antiprotease inhibitor deficiency, is a disease caused by genetically determined AAT deficiency. It occurs as a result of inheritance of two protease inhibitor (PI) deficiency alleles from the AAT gene locus (designated PI) on chromosomal segment 14q32.1. The most common deficiency allele is PI*Z and a large majority of individuals with severe AAT deficiency are PI type ZZ. The disease occurs predominantly in white persons of European origin and its frequency in Europe and North America is comparable to that of cystic fibrosis (1 in 2000 to 1 in 7000.) Persons with AAT deficiency may have no clinical manifestations. Chronic obstructive pulmonary disease (COPD) with a high frequency of panacinar emphysema is the most prevalent clinical disorder associated with AAT deficiency and the most frequent cause of disability and death. Tobacco smoking is the major risk factor for developing COPD, which generally begins by the third decade of life, much earlier than "usual" COPD that occurs in AAT-replete individuals. Liver disease, the second most frequent clinical manifestation of AAT deficiency, typically presents as cholestasis in infancy but is usually not severe and generally remits by adolescence. Chronic liver disease develops infrequently, although AAT deficiency is the commonest cause of chronic liver disease in childhood. Cirrhosis and carcinoma of the liver affect at least 25% of AAT-deficient adults over the age of 50 years. AAT deficiency appears to be widely underdiagnosed and based on predicted gene frequencies even in the most intensely studied populations, only a small proportion of those predicted to have AAT deficiency have been diagnosed. Human AAT is available in limited quantity for augmentation therapy. This Memorandum summarizes the discussions and recommendations made by participants at a WHO meeting held in Geneva on 18-20 March 1996 to review existing knowledge about this highly prevalent genetic disorder, develop a strategy for enhancing awareness of it among health-care-givers and the general public, and explore new case-finding and disease-prevention strategies.
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PMID:Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. 944 74


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