Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. 1020 55

A 28-year-old man was admitted to our department with intermittent fever, hepatosplenomegaly and pancytopenia. Liver parameters and serum ferritin were markedly elevated. Bone marrow biopsy showed hypocellularity, histiocytic hyperplasia, and hemophagocytosis consistent with a virus-associated hemophagocytic syndrome (VAHS). There was serological evidence of chronic active hepatitis B and acute hepatitis C virus infection. The patient died despite aggressive immunosuppressive and supportive treatment. Autopsy revealed signs of acute viral hepatitis with cholestasis. Histiocytes engaged in hemophagocytosis were observed in bone marrow and spleen. The condition was interpreted as VAHS associated with chronic active hepatitis B and acute hepatitis C virus infection. To our knowledge this is the first report of a hemophagocytic syndrome in that setting.
 ...
PMID:Fatal virus-associated hemophagocytic syndrome associated with coexistent chronic active hepatitis B and acute hepatitis C virus infection. 1036 94

Niemann-Pick disease, type C, was diagnosed in a 3-month-old boy with hepatosplenomegaly, mild signs of cholestasis, hepatic inflammation and extramedullary erythropoiesis, together with chronic airway disease. He developed muscular hypotonia, psychomotor retardation, rickets, and signs of peripheral neuropathy. The patient was found to excrete abnormal amounts of unusual bile acids in urine at 3 and 5 months of age. These acids were shown to have a 3beta-hydroxy-Delta(5) structure and to carry an oxo or hydroxy group at C-7. They were sulfated at C-3 and nonamidated or conjugated with glycine or taurine at C-24. Part of the 7-hydroxy acids, presumably the 7beta-hydroxylated one, was also conjugated with N-acetylhexosamine, probably N-acetylglucosamine, at the 7-hydroxy group. Possible metabolic pathways for the formation of the 7-oxo and 7beta-hydroxycholenoic acids are discussed. Based on previous data concerning the effects of 3beta-hydroxy-Delta(5) bile acids on bile acid transport, it is suggested that the formation of such bile acids is responsible for the cholestasis in this patient.
 ...
PMID:Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C. 1159 Feb 12

Granulomatous reactions caused by foreign bodies have been described in drug abusers, in subjects exposed to occupational pollutants, and more rarely, in association with the use of prosthetic devices. We describe a 62-year-old patient with multiorgan parenchymal granulomatosis caused by inorganic debris of unknown origin. The patient presented with fever, hepatosplenomegaly, progressive cholestasis, and acute renal failure. Liver and kidney biopsies showed the presence of noncaseating epithelioid giant-cell granulomas containing scattered polarizable particles. Similar particles were also present in stools. Studies by innovative scanning electron microscopy and energy-dispersive microanalytical techniques showed that the particles isolated in liver, kidney, and stools were made by feldspars, the main component of porcelain. No occupational or environmental exposure to these materials could be identified in this patient and the only reliable source of the porcelain debris turned out to be constituted by 2 dental bridges evidently worn because of a possible inappropriate construction, malocclusion, and bruxism. The porcelain of the dental prostheses had the same elemental spectrum of the particles isolated from stool specimens and liver-kidney granuloma. After identification of the dental prostheses as the most likely source of ceramic debris, and after their removal, the particles from stool specimens disappeared. The patient was then treated with steroids leading to a remission of the clinical symptoms and a decrease in granulomatous inflammatory reaction in both liver and kidney. This is the first report suggesting that a foreign body systemic granulomatosis can be associated with worn dental prostheses.
 ...
PMID:Liver and kidney foreign bodies granulomatosis in a patient with malocclusion, bruxism, and worn dental prostheses. 1167 17

It has not been fully determined whether isolated small bowel transplantation (ISBTx) can reverse liver dysfunction caused by intestinal failure requiring long-term total parenteral nutrition (TPN). A boy with congenital microvillus inclusion disease presented with vomiting and severe diarrhea since the first day of life and had been managed by TPN since then. He suffered from catheter-related sepsis several times. At 14 yr of age he developed progressive hepatosplenomegaly with thrombocytopenia and coagulopathy. He underwent ISBTx with an ileal graft from his blood-identical grandmother at the age of 16 yr. Oral feeding was started on the 14th day after ISBTx and gradually increased. TPN was completely withdrawn after 5 months. Liver was palpated 5 cm below the costal margin before ISBTx, while it became non-palpable 5 months after ISBTx. Serum liver enzyme levels and prothrombin time normalized in the 5 months following ISBTx. Liver biopsy showed marked steatosis, slight cholestasis, and mild bridging fibrosis before ISBTx. Although histological examination of liver biopsy revealed complete disappearance of steatosis 7 and 11 months after ISBTx, liver fibrosis remained unchanged. This clinical experience has shown that although steatosis and cholestasis are reversible after successful ISBTx and withdrawal of TPN, liver fibrosis may remain unchanged.
 ...
PMID:Effects of isolated small bowel transplantation on liver dysfunction caused by intestinal failure and long-term total parenteral nutrition. 1210 May 9

This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary gland. She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. Percutaneous biopsy of the liver demonstrated the presence of broad septa of fibrous tissue containing abundant bile ducts without inflammatory cell infiltrates, a finding compatible with congenital hepatic fibrosis. Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with congenital hepatic fibrosis is apparently the first reported in the English literature.
 ...
PMID:Septo-optic dysplasia with congenital hepatic fibrosis. 1458 Jun 61

Cytomegalovirus infection is symptomatic in only 10% of cases. The most frequent findings are cholestasis and hepatosplenomegaly. Ten patients who presented neonatal cholestasis associated with cytomegalovirus infection were studied. The majority had elevation of serum aminotransferases and mild abnormality of hepatic function. The histopathologic findings were: normal, giant cell hepatitis, bile duct proliferation (confused with extrahepatic biliary atresia) and ductopenia. The clinical course of the patients varied from disappearance of the symptoms (2 cases) to death (2 cases). Because of the possibility of confusing the histologic findings with extrahepatic biliary atresia, the etiology of neonatal cholestasis, including cytomegalovirus infection, should be determined as soon as possible.
 ...
PMID:[Neonatal cholestasis and cytomegalovirus infection: clinical and histopathologic forms]. 1468 49

The long-term (5-week) evolution of two experimental models of extrahepatic cholestasis, i.e., macrosurgical by bile duct ligation (n = 20) and microsurgical by biliary tract resection (n = 13), is studied. All cholestatic animals showed jaundice, choluria, and portosystemic collateral circulation. Macrosurgical cholestasis causes greater hepatosplenomegaly, hilar biliary pseudocysts, and ascites. Microsurgical extrahepatic cholestasis occurs with a lower degree of hepatosplenomegaly as well as with serum increase (P < 0.001) of gamma-GT and alkaline phosphatase. The bile ductular proliferation in the four hepatic lobes is very intense (P < 0.001) in both experimental models. The differences between both experimental models may be considered secondary to the increase of the predisposition to infection in rats with bile duct ligation, that complicates their evolution. The microsurgical cholestasis model could be useful in studying cholestasis secondary to biliary atresia.
 ...
PMID:Comparative study of macro- and microsurgical extrahepatic cholestasis in the rat. 1538 69

Hepatopulmonary syndrome (HPS) is defined as a clinical triad including liver disease, abnormal pulmonary gas exchange and evidence of intrapulmonary vascular dilatations. We report a 61-year-old male presented with fatigue, long-lasting fever, loss of weight, signs of portal hypertension, hepatosplenomegaly, cholestasis and progressive dyspnoea over the last year. Clinical, laboratory and histological findings confirmed the diagnosis of granulomatous hepatitis. HPS due to hepatic granuloma-induced portal hypertension was proved to be the cause of severe hypoxemia of the patient as confirmed by contrast-enhanced echocardiography. Reversion of HPS after corticosteroid therapy was confirmed by a new contrast-enhanced echocardiography along with the normalization of cholestatic enzymes and improvement of the patient's conditions. This is the first case of complete reversion of HPS in a non-cirrhotic patient with hepatic granuloma, indicating that intrapulmonary shunt in liver diseases is a functional phenomenon and HPS can be developed even in miscellaneous liver involvement as in this case.
 ...
PMID:Reversion of severe hepatopulmonary syndrome in a non cirrhotic patient after corticosteroid treatment for granulomatous hepatitis: a case report and review of the literature. 1648 41

Macrophage activating syndrome (MAS) is a rare hematological disorder associated with uncontrolled systemic T-cell activation. Persistent fever, fatigue and hepatosplenomegaly are frequent clinical manifestations, whereas hyperferritinemia, elevated serum lactate dehydrogenase levels and cytopenia are key criteria for the diagnosis of MAS. The nature of liver pathology in MAS has been partially elucidated but destructive biliary lesions have been rarely described. This report illustrates four cases of MAS developing marked cholestasis, leading to one case of biliary cirrhosis necessitating liver transplantation. Histologically, liver involvement was characterized in all cases by acute lobular hepatitis, marked hepatocyte apoptosis and small bile duct injury similar to the vanishing bile duct syndrome. Immuno-histological studies showed that the inflammatory changes and bile duct lesions were dominated by the presence of activated macrophages and T-cells, in particular CD8+ lymphocytes, and in part NK-cells. These findings suggest that in MAS, various T-cell triggers such as infection, autoimmune disease and malignancy might result in the release of cytokines, which in turn activate macrophages to trigger a systemic acute phase response and local tissue damage. This communication suggests that a macrophage, T- and NK-cell network is operational in the pathogenesis of the cholangiocyte, hepatocyte and sinus endothelial cell damage in MAS.
 ...
PMID:Macrophage activating syndrome is associated with lobular hepatitis and severe bile duct injury with cholestasis. 1661 13


<< Previous 1 2 3 4 5 6 Next >>