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

Report of a 10-year-old boy with congenital hypoplasia of the intrahepatic bile ducts, the socalled MacMahon-Thannhauser-Syndrome. The patient had been suffering from a varying degree of jaundice since his 2nd day of life and from pruritus since his 21st month of life. Furthermore, he had hepatomegaly, a systolic cardiac murmur, hypogenitalism, retarded growth, and finally hypertension. Transitory xanthomas existed between 1 3/4 and 2 3/4 years of age. Signs of persistent intrahepatic cholestasis was manifested by increased levels of bilirubin and bile acids in serum as well as raised activities of leucine aminopeptidase, gamma-glutamyl transpeptidase and alkaline phosphatase. Pathological values of serum glutamic dehydrogenase pointed to a persistent destruction of liver cells. Without treatment, the activities of vitamin K dependent clotting factors were decreased. Cholesterol, phosphatides and triglycerides in serum were increased and lipoprotein-X was detectable. Aortography revealed stenosis of both renal arteries. An exploratory laparotomy and 5 liver biopsies led to the diagnosis of hypoplasia of the intrahepatic bile ducts. Therapeutic trials with steroids and the anion exchange resin "cholestyramine" were ineffective. Phenobarbital relieved the pruritus. Parenteral administration of fat soluble vitamins restored the activity of vitamin K dependent clotting factors to normal. The high blood pressure fell significantly due to treatment with adelphan. The etiology of hypoplasia of the intrahepatic bile ducts is unknown. It may be a malformation or an obliteration secondary to inflammation. In our patient, narrowing of the renal arteries, increase of plasma-renin activity and hypertension were probably secondary to hyperlipidemia. It has been suggested that hyperlipemia secondary to cholestasis may be due to a disturbance of lipoprotein metabolism. A review of reports on 118 patients suffering from intrahepatic bile ducts hypoplasia is included.
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PMID:[Hypertension and bilateral stenosis of the renal artery associated with congenital hypoplasia of the intrahepatic bile ducts (author's transl)]. 124 84

A 8 years old girl suffering from the Larva-migrans-Syndrome (Ascariasis) was operated on the false diagnosis of acute appendicitis. The cardinal symptoms of this disease are chronic eosinophilia, hepatomegaly, affection of the lungs, vague abdominal symptoms, in this case simulating acute appendicitis. Diagnostics, therapy, prognosis and prophylaxis are dealt with in detail.
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PMID:[False diagnosis of acute appendicitis: visceral larva migrans syndrome]. 684 14

We report a case of Zieve's Syndrome that developed after an important alcohol consumption in a 32-yr-old female patient. She was admitted to the hospital with anorexia, asthenia and jaundice. Physical examination showed liver stigmata and hepatomegaly. Laboratory tests demonstrated increased aminotransferase levels, hyperbilirubinemia, hyperlipidemia and normocytic and normochromic anemia with dianocytes in peripheral blood smear. Ultrasonography showed a hyperechoic liver and a liver biopsy showed acute and chronic alcoholic liver disease. Clinical evolution was satisfactory and the therapy consisted of blood transfusion, parenteral fluids, B-complex vitamin and a fatty free diet. Jaundice, hyperlipidemia and haemolytic anemia define Zieve's Syndrome (Z.S.) There is a pathogenetic relationship among the clinical and biological phenomena in this syndrome, whose starter is an acute alcohol intake. Haemolysis is the distinctive feature with respect to the classical acute alcoholic hepatitis, and it is due to erythrocyte's metabolic and osmotic instability in relation to lipids abnormalities. Its clinical resolution precedes the normalization of serum lipids levels. Therapy is similar to that for acute alcoholic hepatitis although sometimes the anemia requires blood transfusion.
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PMID:[Zieve's syndrome. A case report]. 864 20

The primary biliary cirrhosis (PBC) is a no frequent entity in our country. Its diagnosis is based on clinical features, cholestasic pattern in liver function tests and the presence of antimitochondrial antibody in 90% of cases and other auto-antibodies in the serum, all this information is supported by characteristic hepatic histopathologic data. Also some clinical variants have been described that has suggested different denominations such as Overlap Syndrome, associated to autoimmune hepatitis and autoimmune colangitis, known by its persistent negativity of the antimitochondrials antibodies.The present study reports the clinical, biochemical and immunological findings of 22 patients with histopathologic diagnosis of PBC observed between 1994 and 1999, in Arzobispo Loayza Hospital and private offices, in Lima, Per .Results shown a cholestatic pattern in 100% of patients, jaundice in 95%, pruritus in 86%, hyperpigmentation of skin in 40.9%, hepatomegaly in 36.9% splenomegaly in 37.3% and xantelasma in 36%; alkaline phospatase was increased between 5 and 30 times the normal values in all patients, oxalacetic and piruvic transaminases were increased more than twice the normal values in 95% and 90%, respectively and hypercholesterolemia in 89% of patients; the antimitochondrial antibodies were positive in 64%, antinuclear antibodies in 32% and anti smooth muscle in 18%; 7 patients present associated autoimmune diseases, 4 with sicca syndrome, 2 with vitilige and 1 with hemolitic anemia. Three patients were classified as primary biliary cirrhosis, associated to autoimmune hepatitis; 4 patients died during the follow up and six patients were treated with ursodeoxicholic acid for more than six months.We can conclude that the profile found is a cholestasic pattern with jaundice in the majority of patients, low positivity of mitochondrial antibodies; there was no difference between AMA positive and negative patients, and in the third part of patients it was observed an associated immune disease and in three cases there was evidence of association with autoimmune hepatitis (Overlap Syndrome). Finally, the treatment with ursodeoxicolic acid improves some biochemical parameters, but apparently, they do not survival improve.
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PMID:[CLINICAL AND IMMUNOLOGICL PROFILE IN 22 PATIENTS WITH PRIMARY BILIARY CIRRHOSIS] 1213 81

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.
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PMID:Morbidity in Alagille syndrome in 6 Malaysian children. 1519 Jun 47

Generalized congenital lipodystrophy or Berardinelli-Seip Syndrome is a rare autosomal recessive condition characterized by the absence of adipose tissue and eventually a defect in leptin synthesis. Affected subjects tend to show a classical phenotype with acromegaloid appearance, generalized atrophy of subcutaneous adipose tissue with muscular hypertrophy, acanthosis nigricans, hepatomegaly and prominent abdomen. From metabolic point of view and as a consequence of leptin absence, hypertriglyceridemia leading to hepatic steatosis and insulin resistance may appear. Two cases of unrelated subjects affected of generalized congenital lipodystrophy are presented. Both developed difficult-to-manage diabetes mellitus and were treated with high doses of insulin. In both cases early microvascular complications were present. A mutation for LMNA gene was found in one of the subjects.
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PMID:[Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases]. 2142 30

Fanconi -Bickel Syndrome (FBS) is described as an autosomal recessive Glycogen Storage Disorder type XI. The underlying enzyme defect is unknown. The gene GLUT2 maps to 3q26.1-q26.3; encodes a facultative glucose transporter gene. A 6-y-old girl presented with the characteristic facial gestalt, glucose and galactose intolerance, proximal renal tubular dysfunction, hepatomegaly, and altered liver function. To confirm the diagnosis, mutation analysis was performed. Patient showed homozygous mutation in exon 9 of GLUT2 gene 1093 C>T, the mutation causing transition from arginine to stop codon at position 365 and causing premature termination of protein. The mutation was found to be causative as previously described. To the best of authors' knowledge this is first Indian patient ever reported with a mutation. Genetic testing can be employed as a method of confirming diagnosis, especially where definitive mutation can be useful for prenatal diagnosis and prognostication.
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PMID:Fanconi- Bickel Syndrome: mutation in an Indian patient. 2197 75

Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
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PMID:Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. 2293 83

Fanconi- Bickel Syndrome (FBS) is a rare type of glycogen storage disease (GSD) Characterized by hepatomegaly, proximal renal tubular acidosis (RTA) and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS) was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.
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PMID:Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. 2345 90

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and renal tubular acidosis. Gene sequencing revealed homozygous mutation, c.1330T > C in SLC2A2 gene, thus confirming the diagnosis of FBS. Only three mutations have been reported from India so far. The primary reason for referral to authors' hospital was for liver transplantation, but an accurate diagnosis led to avoidance of the major surgery and streamlining of treatment with clinical benefit to the child and family.
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PMID:Fanconi-Bickel syndrome - mutation in SLC2A2 gene. 2747 78


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