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)

Intrahepatocytic inclusions of alpha-1-antitrypsin as markers of Z allele were searched by histochemical and immunohistochemical (peroxidase-antiperoxidase) methods in needle biopsy specimens from 80 consecutive cases of cryptogenic cirrhosis and chronic active hepatitis - HBsAg-negative - in adults. All positive cases and 26% of the negative ones were phenotyped in order to determine the frequency of heterozygous (MZ) deficiency. At variance with previous studies, no prevalence of heterozygous (MZ) deficiency could be demonstrated. This result indicates that further investigations are mandatory to establish if heterozygous (MZ) subjects are predisposed to chronic liver disease.
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PMID:Alpha-1-antitrypsin MZ phenotype and cryptogenic chronic liver disease in adults. 635 8

Ultrastructural studies with the transmission (TEM) and scanning (SEM) electron microscopes have added greatly to our knowledge of cellular structure and function in the liver. The normal polyhedral hepatocyte has numerous subcellular organelles, such as mitochondria, peroxisomes, lysosomes and complex rough (rer) and smooth (ser) endoplasmic reticulum. The normal hepatocyte stores glycogen, and sometimes lipid droplets, and secretes bile through the bile canaliculi between adjacent liver cells. It receives nutrients from the sinusoidal lumen across a fenestrated endothelium which is separated by the Space of Disse' from the plasma membrane. The Space of Disse' contains a scant network of reticulin fibers but no basal lamina. Two types of parasinusoidal cells are found in Disse's space: the fat storing cells of Ito, and the Pit cells which may have an endocrine function. The diseased liver has yielded much information in studies with TEM and SEM. The studies with TEM have been most helpful in studying the etiology of infectious diseases such as hepatitis B; have revealed organelle changes such as megamitochondria in cirrhosis and the fibrillar nature of alcoholic hyaline; have led to the identification of specific deposits in metabolic and storage diseases such as hemochromatosis (iron). Wilson's disease (copper), and alpha-1-antitrypsin deficiency (glycoprotein) have proven useful in identifying drug induced liver cell changes such as proliferation of SER and cholestasis, and are useful for identifying specific cell types in inflammatory and neoplastic diseases. In the future, both TEM and SEM coupled with histochemical, cytochemical, immunohistochemical and other analytic techniques will continue to add greatly to our understanding of the liver in health and disease.
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PMID:Ultrastructure of the liver and biliary tract in health and disease. 637 90

A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention of overt clinical disease in individuals with either of these two genetic diseases is discussed.
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PMID:Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband. 660 88

Liver disease related to alpha-1-antitrypsin deficiency occurs only in Pi ZZ homozygous children. Eleven per cent of Pi ZZ infants present with prolonged neonatal cholestasis. In our group, 25 of 45 Pi ZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 Pi ZZ children with cirrhosis died during childhood. Long-term protein-restricted diet and portal systemic shunts were helpful in treatment of four Pi ZZ children with cirrhosis; however, the long-term course in Pi ZZ children with cirrhosis is unpredictable.
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PMID:alpha-1-Antitrypsin deficiency. 660 4

PAS staining, immunohistochemical examination and electron microscopy revealed presence of alpha-1-antitrypsin (AAT) globules in the hepatocytes of a HBsAg and anti-HBc seropositive female patient diseased of liver cirrhosis. The possible causes of cirrhosis are briefly analysed and the diagnostic importance of PAS-positive, amylase-resistant hepatocellular inclusions is discussed. Apart from the case reported, only two of 509 cirrhotic livers of adults, examined either by biopsy or post mortem, demonstrated similar characteristic PAS-positive globules. This indicates that in the population group (135,000 persons) referred for health care to the hospital where the examinations were done, AAT deficiency has played a negligible role in the development of liver cirrhosis in adults.
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PMID:A case of liver cirrhosis with alpha-1-antitrypsin globules and hepatitis B surface antigen seropositivity. 661 Feb 61

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.
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PMID:[Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)]. 696 32

In order to examine the frequency of alpha-1-antitrypsin (AAT) deficiency of phenotype Pi-Z in a consecutive liver biopsy material, PAS/diastase resistent globules with positive immunohistochemical reaction for AAT (AAT globules) were used as a marker of the Pi-Z gene. 34 (4%) of 850 liver biopsies contained AAT globules. More than half of the biopsies with globules had chief histological diagnoses within the groups fibrosis, suspicion of cirrhosis and cirrhosis. Micronodular cirrhosis was significantly more frequent in biopsies with AAT globules. The results support the assumption that AAT deficiency of phenotype Pi-Z as well in homozygous as heterozygous form is associated with development of liver cirrhosis.
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PMID:Alpha-1-antitrypsin globules in liver biopsies. 696 25

Recent evidence suggests that the cirrhosis of alpha-1-antitrypsin deficiency is not invariably fatal as it was previously thought. Portal hypertension is often the major determinant of survival. The few reports of porta-systemic venous anastomosis in this disorder have shown poor results or uncertain outcome. Thus, doubts exist as to whether porta-systemic shunts should be performed in alpha-1-antitrypsin deficiency. Two patients with alpha-1-antitrypsin deficiency (PiZZ) and associated portal hypertension, cirrhosis, and hypersplenism underwent splenorenal shunt and splenectomy 8 yr ago, and both have done well. One of the patients has chronic severe headaches, diarrhea, exudative enteropathy, sinusitis, and hematuria, all uncommon in alpha-1-antitrypsin deficiency but possibly related to the antienzyme deficiency. She also has a higher trypsin inhibitory capacity than is generally reported in ZZ individuals. Based on the experience with these 2 patients, it appears that alpha-1-antitrypsin deficiency with cirrhosis is not a valid contraindication to the performance of a portasystemic shunt.
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PMID:Successful spleno-renal shunt and splenectomy in two patients with alpha-1-antitrypsin deficiency. 697 26

One hundred and three infants with prolonged cholestasis beginning before 3 months were classified as having alpha-1-antitrypsin deficiency (17 patients), scanty interlobular bile ducts (16 patients), or "neonatal hepatitis" (70 patients). Twenty-two gradually developed chronic liver disease and the remaining 81 recovered within a few months. Prognosis was found to be poor for infants with alpha-1-antitrypsin deficiency, scanty interlobular bile ducts, and familial "idiopathic" hepatitis. Patients who developed cirrhosis often presented with severe and persistent neonatal cholestasis, mimicking extrahepatic biliary atresia and leading to laparotomy. Thus, a high-risk group of infants-defined by aetiology, family history, and degree of cholestasis-can be recognised in the first months of life.
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PMID:Long-term prognosis for infants with intrahepatic cholestasis and patent extrahepatic biliary tract. 697 22

Three cases of alpha-1-antitrypsin deficiency are reported. Each infant presented in the newborn period with a haemorrhagic tendency which responded to vitamin K. Two of them subsequently developed cirrhosis, and Case 2 is one of the few reported cases in infantile cirrhosis associated with the heterozygous protease inhibitor (Pi) SZ phenotype. On the basis of these 3 patients we feel that the exclusion of alpha-1-antitrypsin deficiency by Pi phenotyping should be considered in any baby presenting with a bleeding diathesis, especially in view of the genetic implications of the homozygous Pi ZZ phenotype.
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PMID:Alpha-1-antitrypsin deficiency presenting as a bleeding diathesis in the newborn. 697 7


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