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

A 51-year-old man had for 5 years been known to have erythropoietic protoporphyria. GPT levels were raised up to 40 U/l, gamma-GT up to 120 U/l. After lengthy exposure to sun radiation an erythema with blisters, abdominal discomfort and jaundice developed (total bilirubin 7.3 mg/dl) and biliary liver cirrhosis with portal hypertension and splenomegaly were diagnosed. Because the acute hepatobiliary complications were not improved by conservative treatment (daily 750 mg ursodeoxycholic acid and 12 g colestyramine), an orthotopic liver transplantation was performed without complication. The excised liver showed small nodular parenchymal transformation and contained reddish brown protoporphyrin pigment in the hepatocellular cytoplasm, the Kupffer cells, the canaliculi and in some biliary ducts. Bilirubin and transaminase levels in blood became normal after the transplantation, as did the urinary excretion of coproporphyrin. However, isomer I was still dominant. The protoporphyrin level in erythrocytes and plasma remained elevated. After a symptom-free interval of one year biochemical and histological tests demonstrated protoporphyrin-induced damage in the transplanted liver.
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PMID:[Liver transplantation in erythrohepatic protoporphyria]. 162 35

A case of fatal familial intrahepatic cholestasis (Byler disease) developed a neuromuscular syndrome similar to that in experimental vitamin E deficiency and abetalipoproteinemia, and died of hepatic and cardiac failure. Serum vitamin E level was extremely low. Autopsy revealed intrahepatic cholestatic cirrhosis without obliterative lesions in the bile duct system and marked splenomegaly with splenoma-like nodules. The other pathological lesions were considered to be due to chronic vitamin E deficiency as follows:1. Mitochondrial changes especially of the hepatocyte and cardiac muscle. 2. Cardiomyopathy. 3. Myopathy. 4. Vasculopathy. 5. Systemic lipofuscinosis. 6. Lesions of the reproductive and endocrine organs. 7. Kyphoscoliosis and pes cavus. 8. Systemic neuroaxonal dystrophy with peripheral neuropathy.
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PMID:Pathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis (Byler disease). 713 26

Pathologic changes of the spleen in primary biliary cirrhosis (PBC) were studied using autopsy cases. By analysis of the data complied in the Annual Registry of Autopsies of Japan (1977-92), it was found that the splenic weight of 184 cases of PBC (450 +/- 224 g) was significantly heavier than that of 41 control autopsy cases of non-biliary liver cirrhosis from the School of Medicine, Kanazawa University (341 +/- 189 g), and also of 210 control cases filed in the Annual Registry of Autopsies of Japan (1982; 334 +/- 174 g). Among the cases of PBC, the splenic weight was positively correlated with the liver weight. There was no significant difference in the splenic weight between the cases belonging to histologic stages 1-3 and those of stage 4. Fibrosis extending from the splenic trabecula, proliferation and dilatation of the splenic sinus, and congestion in the red pulp, all being compatible with chronic splenic congestion, were similarly observed in the spleen in PBC as well as in other non-biliary cirrhotic cases. The present study indicates that the PBC patients present splenomegaly in the non-cirrhotic histologic stage and splenomegaly persists thereafter. However, the histopathologic changes of the spleen peculiar to PBC were not specified in this autopsy study. Prolonged portal hypertension and other mechanisms, possibly related to immune disarrangement, may be responsible for the prominent splenomegaly in PBC.
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PMID:Pathology of the spleen in primary biliary cirrhosis: an autopsy study. 783 76

We report on 56 children with sclerosing cholangitis (SC) seen between 1972 and 1992. The first symptoms occurred at a mean age of 3.7 years; 15 infants had neonatal cholestatic jaundice. At diagnosis, cholestatic jaundice was present in 25 children, hepatomegaly in 54, splenomegaly in 41, and ascites in 12. Serum alkaline phosphatase activity was increased in 49 patients and gamma-glutamyltransferase activity in all patients tested. Most often the histopathologic findings were extensive portal fibrosis and neoductular proliferation. Cholangiography showed abnormal intrahepatic bile ducts in all children and abnormal extrahepatic bile ducts in 35 (63%). The children were separated into three groups: (1) those with SC of neonatal onset (27%); (2) those with SC of postneonatal onset associated with another disease (55%)--histiocytosis X in 14 children, immunodeficiency syndromes in 8, chronic inflammatory bowel disease or autoimmune hepatitis in 8, and congenital psoriasis in 1; and (3) those with SC of postneonatal onset without an associated disease (18%). Biliary cirrhosis was present in all but three children after 6 months to 19.3 years of follow-up. Eleven children died of portal hypertension or liver failure, and six died of a complication related to the associated disease. Fifteen children had liver transplantation; 11 of these are alive 6 months to 6 1/2 years later without recurrence of SC. The overall estimated median survival time of children with SC was 10 years from clinical onset. These results indicate that SC should be suspected in all children with a chronic cholestatic disease and increased serum gamma-glutamyl transferase activity, especially when diseases known to be associated with SC are present. The prognosis is poor, but liver transplantation should be considered except in those with severe immunodeficiency syndromes.
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PMID:Sclerosing cholangitis in children. 828 75

The frequency and the outcome of patients with portal vein (PV) complications in the long-term course after pediatric living donor liver transplantation (LDLT) have rarely been reported. Between June 1990 and September 2003, 527 pediatric patients underwent primary LDLT with left lobe grafts, among which 479 patients with functioning grafts at 3 months after LDLT were included in this analysis. The ages ranged from 29 days to 17 years, 3 months (median: 1 year, 9 months) and body weight from 3.1 kg to 62.4 kg (median: 9.6 kg). Biliary cirrhosis was the most common cause for LDLT (81%). The PV was anastomosed with or without a vein graft. Thirty-nine patients (8%) showed a PV complication (stenosis: 16; obstruction: 17; thrombus: 2; twist: 3). Their ages ranged from 4 months to 17 years, 3 months (median: 1 year) and their body weight from 3.8 kg to 44.8 kg (median: 8.5 kg) at operation. PV complications were detected between 4 and 116 months (median: 14 months) after the transplant. Splenomegaly and decreased platelet counts were observed in more than 90% of the patients with a PV complication. In 27 patients (71%), interventional venoplasty was successful. Eleven patients had obstruction of the PV (2.3%) including three who showed cirrhosis; one with severe pulmonary hypertension; one death after retransplantation; and one alive after retransplantation. Moderate fibrosis was found in two patients at 3 and 2 years after the procedure, one of whom had the complication of a moderate intrapulmonary shunt. Early detection of PV stenosis with these two markers can lead to successful angioplasty and avoid graft loss.
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PMID:Portal vein complications in the long-term course after pediatric living donor liver transplantation. 1584 48