1/156. sarcoidosis with selective involvement of a second liver allograft: report of a case and review of the literature.A case of sarcoidosis recurrent in a patient's second liver allograft is described. There was no granulomatous disease seen in the patient's first liver allograft. After the second orthotopic liver transplantation (OLT), the patient was successfully treated for acute rejection, aspergillus infection, and cytomegalovirus viremia. Approximately 2 months after the second OLT, the patient was treated with long-term interferon-alpha for recurrent hepatitis c. Five years after the operation, he experienced liver failure secondary to recurrent hepatitis and underwent a third OLT. This is only the second reported case of sarcoidosis recurrent in the liver parenchyma of a transplanted organ and the first in which interferon-alpha might have played a role.- - - - - - - - - - ranking = 1keywords = alpha (Clic here for more details about this article) |
2/156. An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets.Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.- - - - - - - - - - ranking = 5.2802778268613keywords = deficiency (Clic here for more details about this article) |
3/156. Sclerosing hyaline necrosis of the liver in bloom syndrome.bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with mallory bodies in the liver of a patient with bloom syndrome. mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in bloom syndrome is discussed.- - - - - - - - - - ranking = 1.0560555653723keywords = deficiency (Clic here for more details about this article) |
4/156. Mesenchymal hamartoma of the liver--new insight into histogenesis.BACKGROUND/PURPOSE: Mesenchymal hamartoma (MH) of the liver is thought to develop from the ductal plates of the prenatal liver. This immunohistochemical study was performed to gain insight into the pathophysiology of its development. methods: Specimens from four MHs with adjacent liver, in one case from a biopsy and from the resected lesion after 6 years follow-up, were investigated with immunostaining on cryostatsectionswith antibodies against cytokeratins, vimentin, desmin and alpha-actin, as well as von willebrand factor (factor viii), fibroblast growth factor (FGF) receptors, FGF-1 (acidic FGF), FGF-2 (basic FGF), and the proliferation-associated Ki67 antigen. RESULTS: Fibrous tissue of MH stained positive not only for vimentin, but also for desmin and alpha-actin, whereas cytokeratins and factor viii showed specific staining in biliary cysts and endothelial cells, respectively. All mesenchymal cells expressed proteins of the FGF receptor family. Although FGF-1 was only scarcely detectable, there was an accumulation of FGF-2 in borderline areas of liver to MH. Multiple Ki67-positive mesenchymal cells could be identified in these regions in all three MHs. However, we could not detect any proliferative activity in the MHs after follow-up. CONCLUSIONS: The proliferative process in MH is still active during early childhood. FGF-2 may have a role in promoting this process. The positivity for desmin and alpha-actin of the lesions suggests that fat-storing (Ito) cells of the immature liver may be involved in the development of MH.- - - - - - - - - - ranking = 1.5keywords = alpha (Clic here for more details about this article) |
5/156. Hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta.A rare case of prenatally diagnosed hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta is presented and the literature reviewed. The placenta was noticed to have multiple cysts at 16 weeks' gestation and elevated maternal serum alpha-fetoprotein was present. Cystic liver masses were first detected in the fetus at 34 weeks' gestation. The liver mass showed a progressive enlargement during the third trimester and after birth, necessitating extended left hepatic trisegmentectomy at 3 months of age. Histological examination established the diagnosis of mesenchymal hamartoma of the liver and mesenchymal stem villous hyperplasia of the placenta. This is the first report of this association in which both lesions were diagnosed in utero and confirmed by histology after delivery. The likely pathogenesis of these strikingly similar lesions is discussed.- - - - - - - - - - ranking = 0.5keywords = alpha (Clic here for more details about this article) |
6/156. Visceral manifestation of cat scratch disease in children. A consequence of altered immunological state?A 12-year-old girl with a 2-month history of fever and abdominal pain was admitted to our hospital. Ultrasound and CT scans of the abdomen showed multiple hypoechoic lesions of liver and spleen. Screening for zoonosis revealed high positive titers to bartonella henselae. T-cell deficiency was demonstrated and remained almost unchanged during a follow-up of 11 months. A review of the literature shows that disseminated visceral affection is a rare presentation of cat scratch disease (CSD) in childhood and adolescence. Further immunological investigations are needed in more patients with CSD to confirm whether an altered immunological state may be responsible for the atypical visceral manifestation of CSD.- - - - - - - - - - ranking = 1.0560555653723keywords = deficiency (Clic here for more details about this article) |
7/156. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family.A 53-year-old English woman who had been thought to have systemic monoclonal immunoglobulin light chain (AL) amyloidosis was investigated further because of her unusually long 17-year history and a suggestion of renal disease in the family. She was found to have the Glu526Val fibrinogen alpha-chain variant that causes autosomal dominant hereditary systemic amyloidosis. This has not previously been described in a British family. The mutant gene was associated with the same haplotype as in all other reported cases, suggesting a common founder. The patient had already received a renal transplant, but the graft failed within 6 years due to amyloid deposition. Progressive hepatic amyloidosis eventually caused liver failure, although the function of other organs was well preserved. She therefore received hepatic and renal transplants to replace the failed organs and the hepatic source of the amyloidogenic variant fibrinogen. Three years later she is completely well and has no amyloid deposits identifiable by serum amyloid P component scintigraphy. This is the first detailed report of hepatic transplantation for liver failure caused by amyloidosis of any type. The substantial follow-up suggests that fibrinogen alpha-chain amyloidosis is one of the inherited metabolic diseases that can be cured by liver transplantation. The mutation underlying Glu526Val fibrinogen alpha-chain amyloidosis is incompletely penetrant and has a variable phenotype that can clinically mimic AL amyloidosis. Hereditary fibrinogen amyloidosis may be more prevalent than previously suspected and, since AL amyloid is sometimes a diagnosis of exclusion, genotyping for other amyloidogenic proteins is mandatory in all cases in which the amyloid fibrils cannot be positively identified as AL.- - - - - - - - - - ranking = 3.5keywords = alpha (Clic here for more details about this article) |
8/156. alpha1-Antitrypsin deficiency and liver disease in children.This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants.- - - - - - - - - - ranking = 896.1597501791keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
9/156. Alpha-1-antitrypsin deficiency and liver in adults.Thirteen adult patients (aged 16 to 73 years) form 12 families are described with liver disease and alpha- 1- antitrypsin deficiency. Long-term observation of several of these patients suggests that the liver disease may be only slowly progressive, but review of possible factors aggravating this has failed to reveal any obvious clues. Progression to death from hepatic failure was the commonest outcome, but one patient developed a malignant hepatoma and two others died because of intraperitoneal haemorrhage due to ruptured cirrhotic nodules--a complication not hitherto described in association with this condtion. diagnosis of alpha-1-antitrypsin deficiency was based on serological, histological, immunopathological and genetic studies. The most useful screening test in liver disease was found to be the demonstration of PAS positive globules in liver biopsy material which is diagn by immunofluoresence or immunoperoxidase, the latter being a superior technique. serum estimation of alpha-1 -antitrypsin deficiency was performed by immunoelectropharetic and immunodiffusion techniques, the former being preferred because it gave more consistent results. Both methods, however, were of limited value since wide variations in the serum values are commonly found in normal and abnormal states. Genotyping was carried out using starch gel electrophoresis and although of value in family studies, its value as a diagnositc aid is limited because of technical difficulties and also because alpha-1-antitrypsin accumulation in the liver may be found in both homozygous and heterozygous states. It is suggested that adult liver disease associated with abnormalities in alpha-1-antitrypsin may be more common than has hitherto been reported. This condition should be systematically sought in all cases of liver disease of uncertain aetiology.- - - - - - - - - - ranking = 2172.4955422903keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
10/156. alpha 1-antitrypsin deficiency and infantile liver disease.Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis".- - - - - - - - - - ranking = 1234.6264146968keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
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