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)

Ascaris lumbricoides infestation in the liver and biliary tract causes various clinical manifestations due to the migration of larvae and adult organisms. Parasites in the bile ducts cause obstruction and such complications as cholecystitis, cholangitis and liver abscesses. We report the US findings of biliary ascaridiasis as observed in a series of 13 children over a 3-year period. The patients (6 females and 7 males) presented hepatosplenomegaly, abdominal distension, right subcostal pain; 3 of 13 exhibited subicteric features and fever. The US features of Ascaris lumbricoides infestation are: hyperechoic linear images due to parasites within the dilated bile ducts, target images; mobile hyperechoic linear images within the gallbladder; intrahepatic abscesses with different features and sizes. Microscopic sections of hepatic tissue show inflammatory infiltration around the Ascaris eggs. Emergency surgery is sometimes to be performed. The value of US, as we assessed it, has been already stressed by other authors.
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PMID:[Hepatobiliary ascaridiasis in childhood: echographic diagnosis]. 163 39

Multiple myeloma associated primary biliary cirrhosis (PBC) is very rare and only two cases have been reported. In this paper, we reported the first case of male patient with asymptomatic PBC and multiple myeloma. A 66 year-old Japanese male was referred to our hospital for the further examination of a monoclonal gammopathy. He was diagnosed of multiple myeloma (IgG-lambda type) because of 2.3 g/day of Bence Jones proteinuria (lambda type), 3,401 mg/dl of monoclonal IgG (lambda type), 12.8% of bone marrow plasmocytosis and generalized osteoporosis. The alkaline phosphatase was 314 mU/ml and serum IgM level (polyclonal) 937 mg/dl. The patient was started on intermittent courses of melphalan and prednisolone, achieving transient improvement. After two years, hepatosplenomegaly developed gradually and the levels of serum ALP elevated increasingly. At that time, relevant investigation results were: serum ALP 663 mU/ml, serum IgG 4,144 mg/dl, serum IgM 823 mg/dl, positive anti-mitochondrial antibody test x 320. The liver biopsy showed chronic nonsuppurative destructive cholangitis. PBC (stage 1-2 according to Sheuer's criteria) associated with multiple myeloma was diagnosed. A pathogenetic relationship such as loss of immunoregulatory function could be speculated although the simultaneous occurrence of PBC and multiple myeloma could be coincidental.
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PMID:[Multiple myeloma of IgG-lambda type associated with asymptomatic primary biliary cirrhosis]. 251 98

We report the clinical features of 7 men (mean age 22 years, range 7-53 years) with congenital hepatic fibrosis (CHF). Five patients presented with variceal bleeding and/or hepatosplenomegaly due to portal hypertension. Cholangitis was the presenting symptom in the other 2 cases. Diagnosis was established by histological examination of a surgical wedge biopsy (4 patients) or needle biopsy (3 patients). A portal-systemic shunting was performed in 6 patients, three times prophylactically. None of the 5 survivors developed chronic hepatic encephalopathy. Recurrent bouts of cholangitis with septicemia and hepatic abscesses were a major complication in 5 patients with a fatal outcome in 2 cases. Six patients had associated small and large cysts in the cortex of both kidneys, compatible with adult-type polycystic disease. One patient developed terminal renal insufficiency. In 3 patients kidney function remained normal at a mean follow-up time of 7.5 years (range 1-18 years). In 2 families (4 cases) an autosomal dominant inheritance of renal disease was suggested. This study demonstrates that CHF is a rare cause of portal hypertension in late childhood and in adults. Cholangitis is a severe and frequently fatal complication. Association with a variety of congenital renal abnormalities is very frequent. However, the association with adult-type polycystic disease as reported in 4 cases is very rare.
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PMID:Congenital hepatic fibrosis. 341 Nov 2

The clinical, radiological and hepatic histological features of 51 patients with hepatobiliary fibropolycystic disease were reviewed. Many of the patients had more than one of the diseases; the combination of both congenital hepatic fibrosis (CHF) and Caroli's disease was most striking. Twelve patients with CHF (50% male) presented at 6 +/- 2 years of age (mean +/- SEM) with hepatosplenomegaly or variceal bleeding. Their main problems were recurrent variceal bleeds and renal disease. Polycystic kidneys and renal stones were present in 79% and chronic renal failure in 30%. Six of the 8 patients with Caroli's disease were male (75%) and presented later (aged 37 +/- 8 years) with hepatomegaly or cholangitis. Recurrent cholangitis developed in most (7/8) and 2 had polycystic kidneys. Twelve patients had a combination of CHF and Caroli's disease presenting with hepatosplenomegaly, bleeding or cholangitis. As in Caroli's disease, most (83%) were male, but the age of presentation (15 +/- 4 years), and the incidence of polycystic kidneys (42%) and renal failure (8%) was intermediate between CHF and Caroli's disease. In these patients, bleeds always predated cholangitis. Histologically, acute cholangitis was superimposed on the changes of CHF. Adult polycystic liver disease (10 patients) presented later (43 +/- 3 years) in females (90%) with pain, a mass or incidentally; polycystic kidneys were present in 33%. Microhamartomas (10 patients), which were usually incidental findings, were diagnosed latest (50 +/- 6 years). Three choledochal cysts were seen. The hazard of cancer in these diseases was reflected by 2 bile duct cancers and 1 pancreatic cancer (incidence 6%). This study has confirmed that hepatobiliary fibropolycystic diseases form part of a family and are often associated together. However, the diseases are of greatly differing severity and the prognosis in an individual patient is determined by the fibropolycystic diseases present.
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PMID:Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. 395 71

Twenty-seven children with congenital hepatic fibrosis were followed for three months to 12 years. Hepatosplenomegaly, normal liver function tests, and kidney abnormalities were present in most patients, indicating that a correct diagnosis of congenital hepatic fibrosis could be made using simple clinical, biologic, and radiologic criteria. Esophageal endoscopy showed varices in 21 patients. Sixteen children underwent portal-systemic shunt surgery. Follow-up examinations did not show any impairment of liver function or any sign of hepatic encephalopathy. Cholangitis was present in only three children.
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PMID:Congenital hepatic fibrosis in children. 726 89

Presentation of autosomal recessive polycystic kidney disease (ARPKD) ranges from severe renal impairment and a high mortality rate in infancy to older children and adolescents with minimal renal disease and complications of congenital hepatic fibrosis (CHF), cholangitis and portal hypertension. Renal transplantation improves prognosis but it is unclear whether CHF in transplanted children follows the same clinical course as in older children with less severe renal disease. The aim of this study was to evaluate morbidity from CHF in ARPKD post renal transplantation. Data were analyzed for six males and eight females, transplanted for ARPKD (mean age 8.3 years, range 1-22.3 years) at the University of Minnesota between 1972 and 1998. Follow-up was for a mean of 14.5 years (range 3.1-33.6 years). One and 5 years patient survival rates were 93% and 86%, respectively. Overall five patients (36%) died; 4/5 deaths were related to CHF. Causes of death were hepatic failure immediately post transplant (n = 1), septicemia related to bile duct dilatation (n = 3) and multiorgan failure (n = 1). One and 5years graft survival rates were 87% and 70%, respectively. One patient had a combined liver-kidney transplant and two were re-transplanted. Initial signs of CHF were splenomegaly (n = 5), hepatosplenomegaly (n = 4) and gastrointestinal bleed (n = 2). Progression of CHF through childhood included hypersplenism (n = 7), esophageal varices with gastrointestinal bleeding (n = 5) and bile duct dilatation (n = 5). Portal hypertension was treated with portosystemic shunt (n = 3), sclerotherapy (n = 2), banding of varices (n = 1) and transjugular intrahepatic portosystemic shunt (n = 1). Of the nine survivors (mean age 12.8 years) 78% have functioning grafts (one liver-kidney transplant), 63% have portal hypertension and 22% have asymptomatic biliary dilatation. Complications of CHF developed in 79% of children who received a renal transplant for ARPKD. Mortality related to CHF occurred in 29% and accounted for 80% (4/5) of the deaths.
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PMID:Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. 1211 59

In 1958 Caroli was the first to define exactly in literature the congenital dilatations of the intrahepatic bile ducts, concerning a segment, a lobe, or both lobes of the Liver. Later Todani involved it in his classification of the bile duct cysts as type V. Caroli's disease (CD) is quite a rare entity (about 150 cases reported in literature). In CD, stenosis and dilatation cause initially biliary stasis, leading to intrahepatic biliary lithiasis and secondary infection. The spontaneous course of CD is dominated by biliary infection: cholangitis (cholangiohepatitis), septicemia and intrahepatic and subphrenic abscesses. That is why the disease must be recognized before serious complications develop. The authors report about 5 cases of Caroli's disease--2 women and 3 men. Diffuse spread in one patient (25-year-old man) and in four--left lobe involved predominantly. Most common signs and symptoms were: fever, cholangitis, upper quadrant abdominal pain, hepatosplenomegaly, obstructive jaundice, Charcot's triad (in two). Importance for the exact diagnosis involves the use of ultrasonography (US), computer tomography (CT) scan, endoscopic cholangiopancreatography (ERCP), intraoperative cholangiography and cholangioscopy, allowing early diagnosis and therefore a better therapeutic and surgical approach.
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PMID:Caroli's disease. Report of 5 cases and review of literature. 1581 87

We report a case of systemic phaeohyphomycosis in a 13-year old girl. The clinical presentation was with fever, weight loss, cholestatic jaundice with hepatosplenomegaly and generalized lymphadenopathy. The patient was diagnosed initially as tuberculous adenitis and was on antituberculous therapy, but with worsening of symptoms. Lymph node and liver biopsy showed granuloma with fungal hyphae suggestive of phaeohyphomycosis. The patient responded to antifungal therapy. Later she developed secondary biliary cirrhosis with cholangitis due to long stricture of the common bile duct and common hepatic duct requiring biliary stenting. To the best of our knowledge, this is the first report on phaeohyphomycosis causing biliary cirrhosis in the English lilterature.
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PMID:Hepatobiliary phaeohyphomycosis with secondary biliary cirrhosis. 1591 77

The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys detected in utero or within the neonatal period, often resulting in neonatal demise. However, there is an increasing realization that survivors often thrive into adulthood with complications of the ductal plate malformation, manifesting as congenital hepatic fibrosis and Caroli disease, becoming prominent. Previous natural history studies have concentrated almost exclusively on the infantile presenting group. However, developments in understanding the genetic basis of ARPKD, through identification of the disease gene, PKHD1, have allowed exploration of the etiology in patients with ARPKD-like disease or congenital hepatic fibrosis presenting later in childhood or as adults. In the current study we retrospectively reviewed the clinical records, and where possible performed PKHD1 mutation screening, in patients diagnosed with ARPKD or congenital hepatic fibrosis at the Mayo Clinic, Rochester, MN, from 1961 to 2004. Of a total of 133 cases reviewed, 65 were considered to meet the diagnostic criteria with an average duration of follow-up of 8.6 +/- 6.4 years. Fifty-five cases had ARPKD and 10 had isolated congenital hepatic fibrosis with no or minimal renal involvement. The patients were analyzed as 3 groups categorized by the age at diagnosis; <1 years (n = 22), 1-20 years (n = 23), and >20 years (n = 20). The presenting feature in the neonates was typically associated with renal enlargement, but in the older groups, more often involved manifestations of liver disease, including hepatosplenomegaly, hypersplenism, variceal bleeding, and cholangitis. During follow-up, 22 patients had renal insufficiency and 8 developed end-stage renal disease (ESRD), most from the neonatal group. Liver disease was evident on follow-up in all diagnostic groups but particularly prevalent in those diagnosed later in life. A total of 12 patients died, 6 in the neonatal period, but 86% of patients were alive at 40 years of age. The likelihood of being alive without ESRD differed significantly between the diagnostic groups with 36%, 80%, and 88% survival in the 3 diagnostic groups, respectively, 20 years after the diagnosis. Considerable evidence of intrafamilial phenotype variability was observed. Mutation analysis was performed in 31 families and at least 1 mutation was detected in 25 (81%), with 76% of mutant alleles detected in those cases. Consistent with the relatively mild disease manifestations in this population, the majority of changes were missense (79%) and no case had 2 truncating changes. Mutations were detected in all diagnostic groups, indicating that congenital hepatic fibrosis with minimal kidney involvement can result from PKHD1 mutation. The finding of 6 cases with no detected mutations may represent missed mutations or possible evidence of genetic heterogeneity. The current study indicates a broadened spectrum for the ARPKD phenotype and that later presenting cases with predominant liver disease should be considered part of ARPKD.
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PMID:Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 2505 55

Caroli's disease is a rare congenital disorder and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli's disease in an 8-years-old boy with bilobar involvement of liver, (specially affecting right superior lobe) presenting with intermittent abdominal pain, fever and hepatosplenomegaly is reported here.
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PMID:Caroli's disease. 1656 20


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