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

Two Chinese boys, aged 3.5 and 5 years, developed nephrotic syndrome and were chronic carriers of hepatitis B virus surface antigen (HBsAg) and hepatitis B virus e antigen (HBeAg). Renal biopsy showed membranous glomerulonephritis and liver biopsy showed chronic persistent hepatitis. They were given interferon-alpha-2a at a dose of 5 MU/m2 on alternate days for 12 and 16 weeks after 2 years of persistent nephrotic syndrome. Patient 1 showed complete remission and resolution of hepatosplenomegaly, but his serum remained positive for HBsAg, HBeAg and hepatitis B virus DNA. Patient 2 showed only a transient clinical response and seroconversion from HBeAg to anti-HBe status. Although not always successful, interferon treatment should be considered in severe persistent nephrotic states, since there is at present no satisfactory treatment for this form of glomerulonephropathy.
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PMID:Interferon treatment for hepatitis B-associated membranous glomerulonephritis in two Chinese children. 851 10

This retrospective case review sought to report the findings of a health screening of 100 international adoptees. Included were the 1st 100 children who attended the Outpatient Inter-Country Adoption Clinic at the Royal Children's Hospital in Melbourne. A medical history was taken and a thorough physical examination and series of screening investigations were performed on all children. The children range in age from 2 months-16 years (median=5 months; mean=2.8 years). The countries most represented were Korea with 36 children and India with 21. 30 children fell below the 3rd Australian centile for both height and weight. Abnormalities on physical examination included hepatosplenomegaly (13 children), scabies (6), and severe dental caries (6). Parasitic infestation of the stools was found in 23 children, a positive Mantoux test result in 9 (3 with active tuberculosis), anemia in 12, elevated hepatic transaminase levels in 9, and positive hepatitis B surface antigen and e antigen in 2. I child had acquired syphilis. Screening for human immunodeficiency virus antibody gave negative results in all children. These international adoptees constitute a special pediatric subgroup which require assessment and screening as soon as possible after arrival in their adoptive country.
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PMID:Health screening of international adoptees. Evaluation of a hospital based clinic. 154 38

A case of polymyositis associated with chronic active hepatitis was reported. A 53-year-old man, who had no previous history of blood transfusion nor hepatitis, noticed proximal dominant muscle weakness on January 29, 1985. He was admitted to Kyoto National Hospital on February 7, and laboratory studies disclosed the elevation of serum enzyme levels; creatine kinase (CK) 9845 IU/L (normal 54-263), glutamate oxaloacetate transaminase (GOT) 834 IU/L (9-31), glutamate pyruvate transaminase (GPT) 491 IU/L (4-34), lactate dehydrogenase (LDH) 2135 IU/L (248-464). Also serum gamma globulin was high (1.8 g/dl) and LE-like cell was found. The diagnosis of polymyositis was made and prednisolone therapy (60 mg/day) was started on February 23. The elevated serum enzymes decreased gradually, but severe muscle weakness persisted for about one month. On April 3, he was admitted to our hospital. Physical examination revealed moderate proximal dominant muscle weakness without skin eruption, jaundice or hepatosplenomegaly. The serum enzymes were still high; CK 1826, GOT 173, GPT 232 (GOT less than GPT), LDH 1548. However, alkaline phosphatase (ALP) and bilirubin were normal. Hepatitis B surface antigen (HBsAg) was not detected. Antinuclear antibody was positive. The electromyogram study showed myopathic change, and the muscle biopsy demonstrated myopathic change and cell infiltration, compatible with polymyositis. These results suggested liver dysfunction associated with polymyositis. Prednisolone therapy was continued and muscle weakness decreased. From December, 1985, serum enzymes (CK, GOT, GPT, LDH) elevated again and muscle weakness also slightly increased. Anti-smooth muscle antibody was positive. It was suggested that both polymyositis and liver dysfunction deteriorated.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of polymyositis associated with chronic active hepatitis]. 218 64

A 74 year old woman with rheumatoid arthritis, hepatosplenomegaly, neutropenia, and peripheral blood lymphocytosis is described. The lymphocytes had a large granular morphology and expressed a CD3+ CD8+ Leu7+ surface antigen phenotype. They did not have natural killer cell function. Southern analysis of the lymphocyte DNA using two restriction enzymes showed a rearranged pattern for the T cell receptor beta chain gene, indicating a monoclonal lymphoproliferation. Large granular lymphocytosis is a rare and heterogeneous phenomenon, which has become more clearly characterised through the application of molecular biology techniques. Most cases appear to be forms of T cell leukaemia with a chronic benign course. The association between rheumatoid arthritis and large granular lymphocytosis is emphasised.
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PMID:Large granular lymphocytosis associated with rheumatoid arthritis. 284 61

Because dual infection with Schistosoma mansoni and hepatitis B may lead to severe liver disease, populations living in schistosomiasis-endemic areas might benefit if effectively immunized against hepatitis B. To determine whether a plasma-derived hepatitis B vaccine is immunogenic in patients with schistosomiasis, 32 individuals infected with S. mansoni were given three 20-micrograms doses of Heptavax-B vaccine and treated with praziquantel. Antibody to hepatitis B surface antigen developed in 90.6% of the study subjects after three doses of vaccine. Five patients (15.6%) had a weak response to the vaccine, and three patients (9.4%) failed to develop antibody. A weak or failed response to the vaccine was significantly associated with the presence of hepatosplenomegaly. A plasma-derived vaccine is immunogenic for persons infected with S. mansoni; however, vaccine response is diminished in hepatosplenic schistosomiasis.
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PMID:Immunogenicity of hepatitis B vaccine in patients infected with Schistosoma mansoni. 295 63

Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population; symptoms include failure to thrive, growth retardation, muscle hypotonia and hepatosplenomegaly. A defect in the plasma membrane transport of dibasic amino acids has been demonstrated at the baso-lateral membrane of epithelial cells in small intestine and in renal tubules and in plasma membrane of cultured skin fibroblasts from LPI patients. The gene causing LPI has been assigned by linkage analysis to 14q11-13. Here we report mutations in SLC7A7 cDNA (encoding y+L amino acid transporter-1, y+LAT-1), which expresses dibasic amino-acid transport activity and is located in the LPI region, in 31 Finnish LPI patients and 1 Spanish patient. The Finnish patients are homozygous for a founder missense mutation leading to a premature stop codon. The Spanish patient is a compound heterozygote with a missense mutation in one allele and a frameshift mutation in the other. The frameshift mutation generates a premature stop codon, eliminating the last one-third of the protein. The missense mutation abolishes y+LAT-1 amino-acid transport activity when co-expressed with the heavy chain of the cell-surface antigen 4F2 (4F2hc, also known as CD98) in Xenopus laevis oocytes. Our data establish that mutations in SLC7A7 cause LPI.
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PMID:Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. 1008 Jan 82