Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent advances in serodiagnosis of hepatotropic viruses have revolutionized the approach to diagnosis and understanding of chronic liver disease (CLD). There are few studies on CLD in children from India. The present study was planned to define the clinical spectrum of CLD in children, its histopathology and seroepidemiology. Forty children with clinical features satisfying the criteria for diagnosing chronic liver disease were studied. All underwent routine laboratory investigations, liver function tests and ultrasound scan of the abdomen. Liver biopsy, upper GI endoscopy and other special investigations were done wherever indicated. The most common presenting features were jaundice (70%), fever (67%), and abdominal distention (60%). On examination hepatomegaly and icterus (80% each) and splenomegaly (67%) were the commonest findings. Serum transaminases were raised in 62.5% of children while prothrombin time was prolonged in 75% patients. Oesophageal and/or gastric varices were seen in 13 out of 29 patients subjected to upper GI endoscopy. Hepatitis B surface antigen (HbsAg) was positive in 5 children (12.5%) while 3 (7.5%) tested positive for anti HCV antibody. The commonest histopathological diagnosis was infantile cholangiopathy (20%) followed by cryptogenic cirrhosis and idiopathic chronic active hepatitis (17.5% each). The study suggests that the incidence of chronic hepatitis B and C is rather low in childhood. However larger and longer studies are required to delineate the exact incidence of these conditions in childhood and their progression in adolescence and early adulthood.
 ...
PMID:Clinical spectrum of chronic liver disease in north Indian children. 961 2

Primary sclerosing cholangitis (PSC) is a rare disease in Taiwan and has not been described in Taiwanese children previously. We report a 4-year-old girl who presented with prolonged fever, eosinophilia (11%), hepatomegaly, and markedly elevated serum levels of alkaline phosphatase (3,318 IU/L) and gamma-glutamyl transpeptidase (475 IU/L). Subsequent investigations including endoscopic retrograde cholangiopancreatography and liver histology confirmed the diagnosis fo PSC. Treatment with a low dose of prednisolone for 2 months and ursodeoxycholic acid during 32 months of follow-up resulted in clinical remission and halted disease progression. A high index of suspicion is necessary for physicians to diagnose this disorder in children with chronic liver disease. Our experience in this case indicates that therapy with prednisolone and ursodeoxycholic acid may be helpful for the treatment of PSC in children, and suggests the need for more trials of combined therapy.
 ...
PMID:Primary sclerosing cholangitis in a child. 1036 42

There is no known treatment for fatty liver, a ubiquitous cause of chronic liver disease. However, because it is associated with hyperinsulinemia and insulin-resistance, insulin-sensitizing agents might be beneficial. To evaluate this possibility, insulin-resistant ob/ob mice with fatty livers were treated with metformin, an agent that improves hepatic insulin-resistance. Metformin improved fatty liver disease, reversing hepatomegaly, steatosis and aminotransferase abnormalities. The therapeutic mechanism likely involves inhibited hepatic expression of tumor necrosis factor (TNF) alpha and TNF-inducible factors that promote hepatic lipid accumulation and ATP depletion. These findings suggest a mechanism of action for metformin and identify novel therapeutic targets in insulin-resistant states.
 ...
PMID:Metformin reverses fatty liver disease in obese, leptin-deficient mice. 1113 85

A 30-year-old HBsAg-positive woman was admitted to the hospital because of 6 days of progressive shortness of breath. She was in severe respiratory distress with circulatory collapse. She had an enlarged liver but no stigmata of chronic liver disease or signs of cirrhosis. She had rapidly developed respiratory arrest and was transferred to intensive care unit. Heart ultrasonography and Doppler scan showed right heart straining and high pulmonary artery pressure. Despite cardiovascular and respiratory support she died a few hours after admission. Autopsy revealed combined hepatocellular-cholangiocarcinoma infiltrating the entire liver, metastatic invasion of lung blood vessels and absence of right ventricular hypertrophy. The incidence of hepatocellular-cholangiocarcinoma, a variant of hepatocellular carcinoma, is roughly 2-3% and the presenting symptoms are abdominal pain, weight loss, jaundice, fever or decompensation of liver disease. Associated HBsAg positivity and cirrhosis are reported in 20-30% and 60% of patients, respectively. Metastases to lungs are relatively frequent but this is the first report of hepatocellular-cholangiocarcinoma presented with acute respiratory distress due to massive pulmonary embolism.
 ...
PMID:Combined hepatocellular-cholangiocarcinoma presented with massive pulmonary embolism. 1102 Aug 95

Nonalcoholic steatohepatitis (NASH) is a condition characterized by hepatomegaly, elevated serum aminotransferase levels, and a histologic picture similar to alcoholic hepatitis in the absence of alcohol abuse. Most patients with NASH are obese women, and many have diabetes mellitus, hypercholesterolemia, or hypertriglyceridemia. NASH has also been associated with a number of metabolic conditions, surgical procedures, and drug treatments. Most patients are asymptomatic. The most common sign of NASH is hepatomegaly. Stigmata of chronic liver disease are rare. Laboratory abnormalities include a 2-4-fold elevation of serum aminotransferase levels; other liver function test results are usually normal. Histologically, there is moderate to severe macrovesicular steatosis and lobular hepatitis with necrosis or ballooning degeneration and/or fibrosis. The pathogenesis of NASH is poorly understood, but lipid peroxidation and oxidative stress are the leading culprits. The natural history of NASH is unknown, but NASH seems to be a stable disease in most patients. Treatment of NASH is unproven, but weight reduction is recommended in obese patients. Small pilot studies of several drugs have shown promise, but large randomized clinical trials are awaited. Orthotopic liver transplantation is the treatment of choice for end-stage liver disease secondary to NASH.
 ...
PMID:Nonalcoholic steatohepatitis. 1152 55

Mutations in the Wilson disease gene ATP7B, a P-type ATPase, are responsible for copper accumulation in the liver and other organs leading to Wilson disease (WD, OMIM 277900). Clinical manifestations of Wilson disease (WD) include chronic liver disease, acute hepatic failure or neuropsychiatric diseases. Since potent medical treatments are available to prevent disabling residual symptoms, early diagnosis is crucial. To demonstrate the clinical course and genetic findings, a male patient with a novel mutation in the ATP7B gene, a 10 base pair insertion in exon 6 (1927ins 10), and a second missense mutation in exon 13 (P992L) is reported. The patient presented with signs of chronic liver disease at the age of 10 years. Clinical findings included hepatomegaly, elevated liver enzymes and coagulopathy. A combination treatment with the copper chelating agent D-penicillamine and zinc acetate was started leading to normalization of liver function and no appearance of neurological signs or Kayser-Fleischer ring after 7 years follow-up. Truncating mutations of the ATP7B gene (insertions, deletions, nonsense mutations) leading to gross loss of C-terminal parts of the protein, thereby probably completely destroying the protein function, may correlate with a hepatic phenotype and early onset as seen in the patient presented.
 ...
PMID:Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD). 1193 61

Hereditary hemochromatosis is an inherited autosomal recessive disease, associated to a mutation in the recently described HFE gene, which is located on the short arm of chromosome 6. The product of this gene combines with the beta-2-microglobulin and the ferritin receptor, and regulates the iron absorption in the small intestine crypt cells. It is possible that the mutation may cause the increased iron uptake by the intestinal cells. The disease is very much common in men after the forties, and its expression is influenced by concomitant alcoholism, iron rich diet, oral and parenteral iron administration, menstrual blood loss or abnormal hemorrhages, blood donations, pregnancy, lactation, and iron malabsorption clinical conditions, like celiac disease. Many patients are asymptomatic, and the diagnosis may be suspected by hepatomegaly of unknown cause, abnormal iron metabolism tests, increased serum aminotransferase levels, diabetes mellitus, and anonymous arthropathy. Less commonly hereditary hemochromatosis presented by symptoms and signs of chronic liver disease, or by the classic triad described by Trousseau skin pigmentation, hepatomegaly and diabetes mellitus. The diagnosis is confirmed by the increased serum ferritin levels and transferrin saturation, and the stainable iron in hepatocytes, measured by scale devised by Scheuer et al, or the measurement of the hepatic iron. The C282Y mutation was found in 64 to 100% of patients; eventually, subjects with hepatic iron overload identical to hereditary hemochromatosis has no mutation, and homozygous for the C282Y mutation do not express iron overload. Iron is best and quickly removed by weekly or twice-weekly phlebotomy of 500 ml, containing approximately 250 mg iron. One to 3 years of weekly phlebotomy may be required to reduce stores to normal. As a guide to long-term maintenance therapy, is recommended phlebotomy every 3 months and the serum ferritin level should be maintained by less than 50 ng/ml.
 ...
PMID:[Hereditary hemochromatosis]. 1217 Feb 86

A total of eighty-one consecutive cases of Kala-azar admitted in all four medicine units of Mymensingh Medical College Hospital during the period from January 2002 to mid August 2002 were included in this study. The number of the patients clearly indicates that the burden of Kala-azar in this region is significant and expanding, which constituted 1.90% of total admission in all 4 medicine units during this period. Majority of the patients were of 20-29 years of age. Male to female ratio was 1.38:1. Maximum number of the patients were of poor socio-economic group with history of housing made up of mud and having close proximity with cattle house. Fever and splenomegaly (100%) were the predominant features. Hepatomegaly was found in 91.36% of the cases. Other clinical manifestations were weight loss (79.01%), normal or increased appetite (65.43%), generalized weakness (72.84%), pallor (69.13%), cough (25.92%), jaundice (17.28%), abdominal Pain (12.34%), hyperpigmentation (9.88%), ascites (4.94%) and bleeding manifestations (4.94%). Notable concomitant illnesses were urinary tract infection (7.40%), pulmonary tuberculosis (3.70%), malaria (1.23%), scabies (4.94%), heart failure (3.70%) and chronic liver disease (2.47%). Due to wide diversity of clinical presentations, clinical features of kala-azar should be evaluated in details which will pave the hidden cases into light.
 ...
PMID:Clinical profile of Kala-azar in adults: as seen in Mymensingh Medical College Hospital, Mymensingh, Bangladesh. 1271 42

We retrospectively studied the records of 6 Malaysian children who were diagnosed with Alagille Syndrome (AGS) according to this criteria from January 1999 to January 2001, at the Institute of Paediatrics, Kuala Lumpur Hospital. Four patients (66%) had a positive family history. Thirteen individuals (6 patients and 7 relatives) were diagnosed with AGS in these 5 families. Only 6/13 (46%) of them presented with liver involvement. All 6 patients presented with typical facies and cholestasis (100%). Three (50%) presented with portal hypertension (PHT) with synthetic liver dysfunction (1 died), 1/6 (17%) have PHT and normal synthetic liver function. Two have cleared their jaundice but have biochemical evidence of hepatitis and hepatomegaly, four have congenital heart disease 5/6 posterior embryotoxon, 2/6 butterfly vertebrae, 4/6 hyperlipidaemia and 4/6 failure to thrive. One patient has a Jagged-1 gene disruption at the translocation breakpoint locus 20p12.3 2n = 46,XX,t(12.20) (q22, p12.3). 5/6 (83%) are still alive. Two-thirds of our patients developed chronic liver disease by 3 years of age. Two-thirds of the index patients have a family history. Only 46% of individuals in these families have clinical evidence of liver involvement. Mortality depends on cardiac/renal disease, end-stage liver failure and intercurrent infection.
 ...
PMID:Morbidity in Alagille syndrome in 6 Malaysian children. 1519 Jun 47

Many haemophilia patients were infected with hepatitis C virus (HCV) in childhood after transfusion with inadequately or non-virus inactivated clotting factor products. Limited information is available on the clinical course of HCV infection in children. To assess the clinical consequences of hepatitis C in these young patients we performed a pilot study of 31 patients with haemophilia, infected with HCV before the age of 13. Current median age was 20 years. Nineteen (61%) patients had chronic hepatitis C, whereas the remaining 12 patients spontaneously cleared HCV. The median duration of infection was 17 years. Among patients chronically infected with HCV, an enlarged liver and/or spleen on ultrasound was present in 59%, whereas 63% had abnormal aminotransferases and/or gamma-GT values. In conclusion, 39% of the patients infected in childhood cleared HCV spontaneously. The majority of the patients with chronic hepatitis C had ultrasound and/or laboratory abnormalities and these findings may be associated with the presence of chronic liver disease.
 ...
PMID:Hepatitis C infection in children with haemophilia: a pilot study. 1556 67


<< Previous 1 2 3 4 5 6 7 8 Next >>