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)

The ultrasonic diagnostics was used as the preliminary stage of examination of 22 children with different forms of portal hypertension. The method was shown to be valuable for differential diagnosis of the diseases followed by hepatosplenomegaly and for the solution of the question of expediency of operations for vascular shunting.
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PMID:[Possibilities of detection of the causes of portal hypertension with ultrasonic diagnostic apparatus]. 671 Jul 85

A case of systemic mastocytosis is described in which the finding on initial presentation was hepatosplenomegaly. No dermatological abnormality was present, and the bone marrow histology originally caused some confusion with primary myelofibrosis. The clinical course and the importance of distinguishing between these two diseases is discussed. The dermatological manifestation of systemic mastocytosis, in the form of urticaria pigmentosa, is well recognised, and alerts the physician to the underlying disease. In the absence of cutaneous signs, however, the diagnosis is less obvious. The case reported had predominantly marrow and splenic involvement by the disease process, giving rise to portal hypertension, and illustrates the problems of diagnosis which can arise.
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PMID:Systemic mastocytosis, myelofibrosis and portal hypertension. 708 13

We present four pediatric patients with histologically proven congenital hepatic fibrosis. The patients had diverse manifestations. The first two patients were seven-year old identical twins who presented with hepatosplenomegaly and were found to have portal hypertension with esophageal varices. The third patient was a newborn who had intractable ascites, secondary to portal hypertension. The fourth patient was a seven-year old with adult type polycystic disease of the kidney but no evidence of portal hypertension. Contrary to what has been reported in the literature of the appearance of portal hypertension in the late childhood period, congenital hepatic fibrosis may present in any age group with portal hypertension.
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PMID:Congenital hepatic fibrosis: a disease with diverse manifestations. 719 50

The influence of genetic factors on the manifestations of disease associated with infection with Schistosoma mansoni (portal hypertension, liver granulomas, hepatosplenomegaly) and their modulation were studied in inbred strains of mice. Three groups were identified according to the degree of portal hypertension: high (portal venous pressure, 19.1 cm H2O: DBA/1J), intermediate (8.9-13.4 cm H2O; BALB/cJ, DBA/2J, CBA/CaJ, C3H/HeJ, and BUB/BnJ), and low responders (6.1 cm H2O; C57BL/6J). Granuloma size, organomegaly, and portal venous pressure were strain dependent and not H-2 dependent and were determined by more than one gene. Studies of schistosomiasis in the F1 generation of high and low responders indicated that more than one gene is involved. Modulation of portal venous pressure between eight and 20 weeks of infection occurred in C57BL/6J but not in BALB/cJ mice and was transferable with immune lymphoid cells. These data indicate that disease associated with infection with S. mansoni and its modulation in mice are influenced by the genetic (non-H-2) background of the host and dependent in part on cell-mediated immunity.
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PMID:Immunopathology of murine infection with Schistosoma mansoni: relationship of genetic background to hepatosplenic disease and modulation. 727 27

S. mansoni and S. japonicum complex schistosomes cause hepatosplenic and hepatointestinal schistosomiasis. The prevalence and incidence of this disease is increasing in all the endemic areas. Hepatosplenic schistosomiasis is seen in a small subset of clinically infected patients and represents a good model of intrahepatic portal hypertension characterised by a presinusoidal portal block and a well preserved liver parenchyma. Symmers' fibrosis is seen in a significant proportion of patients with high worm load. While the pathogenesis of Symmers' pipe stem fibrosis has not been well established, experimental and clinical data point to egg induced granulomata. The main consequences are presinusoidal portal hypertension, oesophageal varices and hepatosplenomegaly. The most striking symptoms are haematemesis or melena secondary to variceal and gastrointestinal bleeding. Cofactors associated with the pathogenesis include aflatoxins, malnutrition, alcoholism, hepatitis B and C virus. While stool examination is the best technique for diagnosis, a number of immunological tests though sensitive are not specific. Ultrasonography is sensitive for detection of Symmer's fibrosis. Praziquantel and oxaminiquine are drugs found to be effective in the treatment of hepatosplenic schistosomiasis. Recently beta-blockers have been found to be effective in the treatment of gastrointestinal rebleeding. Endoscopic sclerotherapy has been found to be effective for treatment of bleeding oesophageal varices. The treatment of choice for portal hypertension is oesophagogastric devascularization with splenectomy (EGDS).
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PMID:Tropical gastrointestinal disease: hepatosplenic schistosomiasis--pathological, clinical and treatment review. 776 89

A report is given on a rare case of a 25 years old pregnant women with hepatosplenomegaly, thrombocytopenia and elevated liver enzymes. Because of an abnormality of the Truncus coeliacus and A. mesenterica superior and portal hypertension there has been performed the end-to-side portocaval anastomosis.
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PMID:[Thrombocytopenia in pregnancy--a case report]. 817 1

Alpha-1-antitrypsin deficiency is an inborn metabolism error which can cause emphysema and liver disease. As regards the pathophysiology of liver disease, this deficiency is poorly understood, and it is also not known why only a small proportion of Pi ZZ individuals progress towards cirrhosis and liver failure. Since there is no specific therapy for end-stage liver disease associated with alpha-1-antitrypsin deficiency, patients are considered candidates for liver transplantation. In this paper, the natural history of 16 children who underwent liver transplantation is reviewed. Fourteen patients had neonatal cholestasis as a first symptom of the disease and hepatosplenomegaly was present in all children by the age of 12 months. In 11 children, jaundice recurred, always with liver function deterioration. Two patients had a histological paucity of interlobular bile ducts and required early transplantation due to rapid progression of liver failure. At the time of pretransplant assessment, all the patients in this study had portal hypertension and seven of them had experienced at least one episode of gastrointestinal bleeding. One child had moderate intrapulmonary shunts with hypoxemia, but the others had normal spirometry and blood gases. There was no other extrahepatic complication of alpha-1-antitrypsin deficiency. Eighteen orthotopic liver transplantations were performed in 16 patients. One patient died 8 days after retransplantation due to graft necrosis. Fifteen patients (94%) were alive after a median follow-up of 22 months with an excellent quality of life, normal serum alpha-1-antitrypsin levels and without evidence of liver disease recurrence or pulmonary complications.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Liver transplantation for end-stage liver disease associated with alpha-1-antitrypsin deficiency in children: pretransplant natural history, timing and results of transplantation. 820 Dec 25

Although seen rarely in Switzerland, schistosomiasis is a parasitosis affecting 200 to 250 million people round the world, mainly in tropical and subtropical regions of Africa, Asia, Central and South America. Depending on the parasitic species, the ureters and the bladder (S. haematobium) or the intestine and the liver (S. mansoni, S. japonicum, S. mekongi) are primarily involved. Other organs may be affected (lung, kidneys and central nervous system). Hepatosplenic schistosomiasis represents a special form of chronic infection by S. mansoni, S. japonicum or S. mekongi predominantly occurring in adolescents heavily and repeatedly infected during childhood, together with an additional genetic predisposition for the disease. Hepatosplenic schistosomiasis on a worldwide scale is one of the most prevalent causes of portal hypertension in man. We describe a 33-year-old Portuguese female with mansonian hepatosplenic schistosomiasis 12 years after leaving Africa, who had hepatosplenomegaly, portal hypertension, esophageal varices and hypersplenism. Splenomegaly and slight anemia had been known for years without prompting further work-up. Two months before diagnosis she had been delivered of a normal child after pregnancy without portal-hypertensive complications, namely esophageal hemorrhage. Because of placenta accreta, however, erythrocyte transfusion had been performed after delivery and was possibly responsible for hepatitis C found later on. Pathophysiology, clinical findings and therapy of the disease are discussed.
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PMID:[Hepatosplenic schistosomiasis: case report and clinical review]. 825 82

Congenital hepatic fibrosis (CHF) is probably the most common cause of non-icteric hepatosplenomegaly and is encountered mainly in children and young adults. We describe here two brothers from healthy, non-consanguineous parents. The patients showed early hepatosplenomegaly, portal hypertension, and no apparent kidney involvement. Clinical and laboratory findings were similar in both patients. Liver biopsies showed the presence of broad septa of fibrous tissue containing abundant bile ducts, portal tracts enlarged by fibrosis, and preserved lobular architecture. The histological findings were suggestive of CHF. Ophthalmological assessment demonstrated visual impairment with mild exotropia, nystagmus, and oculomotor apraxia. Neurological examination showed moderate mental retardation and cerebellar ataxia. Brain MRI confirmed cerebellar malformation with inferior vermis hypoplasia. This pattern of defects is consistent with COACH syndrome (Cerebellar vermis hypoplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) which has previously been reported in five other cases. Our report may contribute to a better delineation of the COACH syndrome phenotype in the spectrum of oculo-encephalohepato-renal disorders.
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PMID:COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. 886 32

Sixty-five abdominal computed tomography (CT) scans of 54 systemic lupus erythrematosus (SLE) patients were retrospectively evaluated together with their clinical records. This was to assess the spectrum of CT findings and to determine the value of abdominal CT in this group of patients. Over a 3.5-year period, abdominal CT scans had been requested for suspected renal vein or inferior vena cava thrombosis (n = 52, 80%), sepsis, mesenteric ischaemia, Conn's syndrome, evaluation of hepatosplenomegaly, portal hypertension and hydronephrosis. The most frequent indication for CT was suspected renal vein thrombosis (RVT). An SLE patient with previously stable renal function who rapidly develops nephrotic syndrome with deteriorating renal function has an increased risk of thromboembolic phenomenon. Also, renal vein thrombosis is difficult to diagnose clinically and prompt anticoagulation can help preserve remaining renal function. Of these with suspected RVT, two had RVT only and five had thrombosis in both renal veins and inferior vena cava. Two patients had CT features strongly suggestive of mesenteric ischaemia, one had bilateral hydronephrosis thought to be secondary to lupus cystitis and CT confirmed two abdominal abscesses. Other incidental CT findings were: subscapular renal haematoma, overall enlargement or diminution of renal size, serositis, bowel wall thickening, splenic, hepatic and pancreatic enlargement and mild para-aortic lymphadenopathy. Abdominal CT revealed many diverse findings and aided the management of these SLE patients.
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PMID:Abdominal computed tomography in systemic lupus erythematosus. 911 46


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