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)

The literature published before October, 1977 on the so-called sea-blue histiocyte syndrome is reviewed. This is a new lipid thesaurismosis, and from a morphological point of view it is characterized by the appearance of large histiocytes in the organs of the reticuloendothelial system with numerous intracytoplasmic granules which take on a typical sea-blue or greenish color with Wright's or Giemsa stain. The exact nature of the accumulated substance has not yet been specifically determined, though it appears to be gluco- and/or phosphosphingolipid, essentially sphingomyelin. The specific biochemical alteration responsible for this chronic deposit has not been established, though a partial sphingomyelinase deficiency has been detected. Sea-blue histiocytes have been observed in two different situations, either as an acquired phenomenon or as a primary condition. Of the latter there have been sporadic cases and cases with a definite familial incidence. The clinical manifestations include enlargement of the liver and spleen, neurological symptoms, cirrhosis of the liver, hemorrhagic diathesis and purpura, chronic pneumopathies, eye or cutaneous disturbances, or no symptoms at all. The disease has a benign clinical course, and the prognosis is less favourable when clinical manifestations appear early in life. These cases have a greater tendency to develop neurological alterations. The final definition of the syndrome must await the clear identification of the accumulated material and the altered enzyme or metabolic pathway.
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PMID:[Sea-blue histiocyte syndrome (author's transl)]. 49 88

The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.
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PMID:[Sea-blue histiocyte syndrome]. 172 57

We report on two young patients with Niemann-Pick disease type B presenting with severe hepatic disease. Both children developed cirrhosis and died of intrahepatic block and mechanical hemolysis. Autopsy findings revealed complete obstruction of the sinusoids by lipid-laden Kupffer's cells. These two cases illustrate a new hepatic lesion of Niemann-Pick disease.
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PMID:Fatal liver failure in two children with Niemann-Pick disease type B. 191 42

A woman with known Niemann-Pick disease, type B, presented at age 33 with upper gastrointestinal bleeding, ascites, and peripheral edema. Evaluation showed massive hepatosplenomegaly, infiltration of the liver with Niemann-Pick cells, cirrhosis, and evidence of portal hypertension. Chronic gastrointestinal bleeding, thrombocyctopenia, and platelet dysfunction were treated successfully by splenectomy. Cirrhosis and portal hypertension have not been reported previously in adult Niemann-Pick disease in the absence of some other cause.
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PMID:Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease. 198 55

Two children with a variant of sphingomyelin lipidosis had otherwise unexplained cirrhosis that was histologically inactive and appeared to run an indolent course. The primary clinical problems involved the central nervous system, with vertical supranuclear ophthalmoplegia being the most distinctive feature. Biochemical analysis of cultured skin fibroblasts obtained from one of the children revealed that sphingomyelinase activity was 42% of control values. The typical inconspicuous hepatic storage and cirrhosis, coupled with the important morphologic finding of sea-blue histiocytes in the marrow, suggested that in cases of unexplained infantile or childhood cirrhosis the marrow should be closely examined for such histiocytes. Likewise, in cases of sea-blue histiocytes without evident etiology, with or without cirrhosis, this disease should be considered.
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PMID:Sphingomyelin lipidosis variant with cirrhosis in the pediatric age group. 308 31

We report a case of Niemann-Pick disease (NPD) with accumulation of sphingomyelin in reticuloendothelial system (RES), hepatocellular giant cell transformation (GCT), cirrhosis, and multiple hepatocellular adenomata in a 19-month-old girl. GCT, but no NP-cells, were seen at age 3 months by biopsy. Cirrhosis and hepatocellular adenomata were demonstrated in the liver at 19 months of age. Cytoplasmic, probably locally synthesized, globules of alpha-1-antitrypsin (A-1-AT) were accumulated in the hepatocellular adenomata. A-1-AT and alpha-fetoprotein (AFP) were present in the serum.
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PMID:Niemann-Pick disease associated with liver disorders. 408 8

Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infiltrates, multiple stigmata of chronic liver disease including the recent cessation of menses, diuretic-resistant sterile ascites, hepatic encephalopathy and variceal bleeding. Five percent of normal sphingomyelinase activity was measured in peripheral leukocytes. A 42-yr-old man with Gaucher's disease and a history of bilateral hip replacements presented with hepatomegaly, jaundice, refractory ascites and renal insufficiency. His evaluation showed 20% to 23% of normal glucocerebrosidase activity in peripheral leukocytes. Both patients underwent orthotopic liver transplantation with resolution of all aspects of decompensated liver function. Assessment of the underlying metabolic defect before and 6 to 14 mo after transplantation showed that after transplantation the patient with Niemann-Pick disease had above normal hepatic sphingomyelinase activity, a less-marked increase in peripheral leukocyte enzyme activity and lower than normal hepatic sphingomyelin and cholesterol content. In contrast, the patient with Gaucher's disease had only a 61% increase in hepatic glucocerebrosidase activity but had an elevated hepatic glucocerebroside content that was only 15% of the pretransplant level and decreased peripheral leukocyte enzyme levels. These findings suggest that variable relationships may exist between posttransplant hepatic and peripheral leukocyte enzyme activities in the different lipidoses, which may have implications for recurrence of glycolipid-induced liver damage.
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PMID:Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. 842 40

Niemann-Pick disease (NPD) is a metabolic disease in which cirrhosis is relatively common; however, there is no known association of NPD with hepatocellular carcinoma. We present a case of metastatic, multifocal hepatocellular carcinoma in a 4-year-old boy with NPD and onset of cirrhosis in infancy.
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PMID:Hepatocellular carcinoma in a child with Niemann-Pick disease: imaging findings. 859 14

Niemann-Pick disease type C is an inborn error of metabolism that affects lipid degradation and storage. Hepatosplenomegaly and progressive neurological symptoms are the main clinical features. We present a case of an adult-onset type of Niemann-Pick disease in a 33-year-old woman who initially presented with dysarthria. At first, laboratory findings suggested Wilson's disease. Laparoscopy showed macroscopic signs of liver cirrhosis and histology did not confirm Wilson's disease. After bone marrow biopsy showed characteristic sea-blue histiocytes, Niemann-Pick disease was suspected and confirmed by filipin stain of cultured fibroblasts. Though rarely encountered, lipid storage disease should be suspected especially in younger patients with organomegaly and progressive signs of neurologic disease.
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PMID:Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -. 1177 57

Hepatocyte injury and necrosis from many causes may result in pediatric liver disease. Influenced by other cell types in the liver, by its unique vascular arrangements, by lobular zonation, and by contributory effects of sepsis, reactive oxygen species and disordered hepatic architecture, the hepatocyte is prone to injury from exogenous toxins, from inborn errors of metabolism, from hepatotrophic viruses, and from immune mechanisms. Experimental studies on cultured hepatocytes or animal models must be interpreted with caution. Having discussed general concepts, this review describes immune mechanisms of liver injury, as seen in autoimmune hepatitis, hepatitis B and C infection, the anticonvulsant hypersensitivity syndrome, and autoimmune polyendocrinopathy. Of the monogenic disorders causing significant liver injury in childhood, alpha-1 antitrypsin deficiency and Niemann-Pick C disease demonstrate the effect of endoplasmic or endosomal retention of macromolecules. Tyrosinemia illustrates how understanding the biochemical defect leads to understanding cell injury, extrahepatic porphyric effects, oncogenesis, pharmacological intervention, and possible stem cell therapy. Pathogenesis of cirrhosis in galactosemia remains incompletely understood. In hereditary fructose intolerance, phosphate sequestration causes ATP depletion. Recent information about mitochondrial disease, NASH, disorders of glycosylation, Wilson's disease, and the progressive familial intrahepatic cholestases is discussed.
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PMID:Mechanisms of liver injury relevant to pediatric hepatology. 1189 Feb 7


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