Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To evaluate the role of alpha-1-antitrypsin deficiency in the pathogenesis of hepatosplenic schistosomiasis, alpha-1-antitrypsin was measured in 90 patients with schistosomal splenomegaly and in 87 phenotyping was also done. All levels were in the normal range except for those of two patients who were shown to have the heterozygous deficiency state, PiMZ. The phenotypes found in the 87 were as would be expected in a normal population. Alpha-1-antitrypsin deficiency does not play a significant role in the pathogenesis of hepatosplenic schistosomiasis.
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PMID:Lack of association of hepatosplenic schistosomiasis and alpha-1-antitrypsin deficiency. 30 24

A case of Hodgkin's disease (HD) in a patient with long-standing hairy cell leukemia (HCL) is reported. The diagnosis of HCL was confirmed by clinical features (chronic illness with marked splenomegaly) and hematopathologic findings (increase of characteristic hairy cells with tartrate-resistant acid phosphatase activity in peripheral blood and bone marrow). Cervical lymphadenopathy first appeared 6 years after the diagnosis of HCL, and histologic features of the node were characteristic of HD. As it was possible that the neoplastic cells of both lesions might have originated from a single clone, their phenotypic features were defined. The hairy cells were found to bear surface immunoglobulin, receptors for complement components, leukocyte common antigen, and antigen defined by LN-1 monoclonal antibody, whereas lymph node lesion was characterized as HD because the Reed-Sternberg-like cells were positive for Leu M1 antigen, lysozyme, alpha-1-antitrypsin, and nonspecific cross-reacting antigen. Since there was no evidence indicating a common clonal origin, it is more likely to consider that both lesions are derived from different clones.
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PMID:Hodgkin's disease in hairy cell leukemia. Phenotypic characterization of neoplastic cells. 365 3

The weights of the spleens of series of patients with various disorders of children dating from birth or early infancy and causing splenomegaly, with or without cirrhosis of the liver, were analyzed. The linear regression equation for spleen weight versus age in months for each disease was derived, and the rate constants from these equations were adjusted for the age range of the patients in each group. The original data of Coppoletta and Wolbach were used for normal values. The rates of splenic growth of appropriate entities for which the regression equation could be computed fell into three groups, with adjusted rate constants (growth of spleen in grams per month) of 6.53-6.95 (biliary atresia, thalassemia, and cirrhosis following neonatal hepatitis), 2.30-2.62 (cirrhosis of alpha-1-antitrypsin deficiency, infantile polycystic disease, and spherocytosis), and 1.06-1.11 (cystic fibrosis and idiopathic thrombocytopenic purpura). These classes of splenic growth rates are approximately 10, 3.7, and 1.6 times the normal growth rate (0.67 g/mo). Rate constants could not be computed for the categories cirrhosis following viral hepatitis and hemolytic anemia other than spherocytosis and sickle cell anemia, and the numbers of patients with splenic vein obstruction, cirrhosis with the cholestatic syndrome of parenteral alimentation, hypoplastic anemia with hemosiderosis, tyrosinemia, Byler's disease, congenital hepatic fibrosis, and Wilson's disease were too few for analysis. The significance of the finding of classes or "quantum groups" of splenic growth rates in disorders of children, dating from birth or early infancy and causing splenomegaly, is uncertain. Comparable data on adequate series of patients with other appropriate disorders will be necessary.
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PMID:Splenic growth rates in cirrhotic and other splenomegalic diseases of childhood. 384 62

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

Liver disease in children tends to present either as: (i) an acute hepatitis with or without jaundice; (ii) incidental finding of abnormal liver function tests; or (iii) from a complication of portal hypertension with either haematemesis and/or incidental splenomegaly. Acute hepatitis may result from acute infection, prescribed or other drugs, ischaemia or vascular causes, autoimmune hepatitis, or idiopathic liver failure. Non-alcoholic fatty liver disease is now the most likely reason for abnormal liver function tests but medications, metabolic disease, cholangiopathy and non-liver causes should be considered. Autoimmune hepatitis and alpha-1-antitrypsin deficiency are the most likely causes of insidious liver disease. An international normalised ratio uncorrected by vitamin K reflects the severity of liver synthetic dysfunction, but not propensity to bleed. Creatine kinase helps to differentiate muscle from liver disease in patients with raised transaminases. Doppler ultrasound of hepatic vasculature is useful when assessing splenomegaly to differentiate extra-hepatic portal hypertension from inherent liver disease.
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PMID:Liver disease in the older child. 3319 71