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)

We present a patient complaining of abdominal pain during eighteen months, localized in left subcostal region, weight loss, asthenia and anorexia for the previous 5 months and fever one month before his admission. He presented painful hepatomegaly, leukocytosis, with an increased percentage of mature and inmature neutrophils, anemia, elevated erythrocyte sedimentation, thrombocytosis, hypergammaglobublinemia and dissociated cholestasis. Complementary exams demonstrated the presence of a poorly vascularized occupying process, localized in the left hepatic lobe. Following laparotomy and biopsy-resection of the process in hepatic left lobe, staining revealed isolated, Gram + filaments and histopathological study showed multiple micro-abcesses displaying actinomyces-like characteristics. There was no evidence of any other pathological process except for previous history of dental abscesses and extractions, which could represent the primary focus for hematogenous dissemination. There was satisfactory response to erythromycin.
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PMID:[Primary hepatic actinomycosis]. 361 61

Alpha-1-antitrypsin is a blood glycoprotein synthesized in the liver. It is a protease inhibitor of the serpine group and has a specific action for elastase. Alpha-1-antitrypsin electrophoresis shows about 20 phenotypes, the normal one being PiM. The allele PiZ is usually responsible for liver or lung disease in children or adults, respectively. Eleven per cent of PiZZ infants present with prolonged neonatal cholestasis. Twenty-five of 45 PiZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 PiZZ children with cirrhosis died during childhood.
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PMID:[Alpha 1-antitrypsin deficiency in childhood]. 387 73

One hundred twenty-eight records of patients with multiple myeloma were reviewed to assess the incidence and manifestations of liver involvement. Histologic study of the liver was available in 21 patients. Diffuse infiltration of the liver by plasma cells was observed in 10 patients, myeloid metaplasia in four, amyloidosis in two, toxic hepatitis in two, and extrahepatic cholestasis secondary to infiltration of the peripancreatic tissue by plasma cells in one. The clinical signs of plasma cell infiltration of the liver consisted of hepatomegaly in seven patients, mild elevation of liver enzymes in five, and portal hypertension in two. Jaundice was only observed in patients with hepatitis or extrahepatic cholestasis. Liver infiltration by plasma cells did not appear to have a major prognostic significance.
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PMID:Liver involvement in multiple myeloma. 402 19

Primary biliary cirrhosis (PBC) is a chronic nonsuppurative, destructive cholangitis, whose etiology is unknown. Morbidity arises early from pruritus and later from hypercholesterolemia with xanthoma formation. Therapy is supportive and directed at the complications of cholestasis. Plasmapheresis has been reported to benefit patients with hyperlipidemia and PBC; thus a pilot study of plasmapheresis utilizing the Haemonetics Model 30 with replacement by albumin and saline was conducted. Five patients (four female and one male) with a mean age of 43 (range 29-58) and a mean duration of illness of 9.5 years (range 6-21) with marked jaundice, xanthomas, xanthelasma, hepatomegaly, fatigability, anorexia, and pruritus, as well as mild nausea were studied. Peripheral neuropathy was present in two patients. Two patients had splenomegaly. Two patients had an associated Sjogren syndrome. All patients had high serum bilirubin, alkaline phosphatase, and cholesterol levels and mild elevations in aspartate amino transferase and alanine amino transferase activities. Immune complexes measured in four patients were present. Antimitochondrial antibody titers were significant in all patients. Patients underwent a mean of 63 plasmapheresis procedures over a mean of 112 weeks removing a mean of 94.7 liters of plasma. No serious toxicity was seen. All patients showed a reduction in pruritus, xanthomas, xanthelasmas, and serum cholesterol values. The two patients who had evidence of Sjogren syndrome noted subjective improvement. All patients who had fatigue, anorexia and nausea also noted moderate improvement. There was no change in hepatomegaly or splenomegaly in patients demonstrating such organomegaly. Liver function did not change significantly. Overall, four patients had improvement in their condition and one patient achieved stability.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The clinical effectiveness and safety of chronic plasmapheresis in patients with primary biliary cirrhosis. 403 Jul 9

A newborn female, the second child of consanguineous parents, exhibited general muscle hypotonia, apathy, hepatomegaly and failure to thrive from birth and signs of craniofacial dysmorphia were present. Pipecolic and trihydroxicoprostanoic acid were excreted in the urine and serum transferrin, ferritin and iron were markedly elevated. At the age of 7 weeks the baby died of respiratory insufficiency. Besides malformations of the brain, renal cysts, liver damage with hypoplastic intrahepatic bile ducts and cholestasis, increased storage of iron and cytochemically proven deficiency of peroxisomes in liver and kidney, morphological studied provided evidence of a mitochondrial myopathy in striated muscle with the accumulation of enlarged bizarre mitochondria, showing only minor structural abnormalities. No defects of NADH-reductase, succinate-dehydrogenase or cytochrome-c-oxidase were demonstrated histochemically. Cytochemical-ultrastructural investigation of mitochondrial ATPase revealed activation of the ATP-synthesising enzyme even before the addition of an uncoupler, this indicating loosely coupled oxidative phosphorylation. In addition a high rate of subcellular autophagy with segregation of mitochondria and focal loss of fibrils was present. Muscle damage in Zellweger syndrome appears to be the consequence of complex, interacting metabolic processes. The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.
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PMID:Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. A cytochemical-ultrastructural study. 614 41

This report describes four siblings affected with familial intrahepatic cholestasis detected in early infancy. In the two male siblings, biliary cirrhosis and fatal hepatocellular carcinoma later developed, whereas the female siblings have had persistent hepatomegaly and recurrent episodes of cholestasis. Sequential biopsies show that this rare disorder of unknown etiology must be added to the many causes of giant cell transformation of the liver in infancy. Its oncogenic risk, particularly in males, has not been generally appreciated.
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PMID:Hepatoma in siblings with progressive familial cholestatic cirrhosis of childhood. 626 30

A 50-year-old black female developed hepatic dysfunction secondary to captopril therapy, 25 mg tid for one month. Liver biopsy showed primarily cholestasis, with secondary hepatocellular elements. Symptoms consisted of jaundice, pruritus, anorexia and weight loss, hepatomegaly, and abdominal tenderness. Total bilirubin, alkaline phosphatase, lactate dehydrogenase (LDH), and serum glutamic-oxaloacetic transaminase (SGOT), reached highs of 506 mumol/L, 737 U/L, 319 U/L, and 100 U/L, respectively. Recovery was slow, but complete, after discontinuation of the drug.
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PMID:Captopril-induced cholestatic jaundice. 636 96

We observed 45 children with a history of neonatal cholestasis associated with alpha 1-antitrypsin deficiency (phenotype PiZ). Twenty-five developed cirrhosis (group 1), and in the other 20, without cirrhosis (group 2), the outcome was considered to be good. Certain clinical, biochemical, and histologic features of each group were studied to permit early assessment of hepatic evolution. Liver biopsy showed that fibrosis was more frequent and severe in group 1 during neonatal cholestasis. Later this group was characterized by possible persistence of jaundice, early development of splenomegaly, and persistence of hard hepatomegaly and liver function abnormalities. Of the latter, sustained elevation of SGPT and direct bilirubin values were the most striking findings. The characteristics of group 2 were harder to identify: clinical recovery and return to normal biochemical values were always signs of a good outcome, as confirmed by the histologic findings; on the other hand, although some of the children in this group without cirrhosis had only minimal abnormalities, histologic evidence of significant portal fibrosis in some patients made long-term prognosis less certain.
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PMID:Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. 660 2

Liver disease related to alpha-1-antitrypsin deficiency occurs only in Pi ZZ homozygous children. Eleven per cent of Pi ZZ infants present with prolonged neonatal cholestasis. In our group, 25 of 45 Pi ZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 Pi ZZ children with cirrhosis died during childhood. Long-term protein-restricted diet and portal systemic shunts were helpful in treatment of four Pi ZZ children with cirrhosis; however, the long-term course in Pi ZZ children with cirrhosis is unpredictable.
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PMID:alpha-1-Antitrypsin deficiency. 660 4

The authors report 15 cases of nodular regenerative hyperplasia (NRH) of the liver observed in 10 women and 5 men during a 9 year period. Gastrointestinal bleeding due to ruptured esophageal varices revealed the liver disease in 11 cases. Hepatomegaly and splenomegaly were noted in 9 cases and ascites in 7. Anicteric cholestasis was demonstrated in 10 cases. Another disease, e. g. myelofibrosis and monoclonal gammapathy, was present in 11 patients. In 10 patients, portal diversion was performed; outcome being favorable with a follow-up of one to six years. The analysis of these cases and of the 113 previously published reports calls for the following comments: 1) In most cases, NRH is characterized by small-sized hepatocytic nodules scattered throughout the entire liver with no surrounding fibrosis; however this histological pattern may vary somewhat, with adjacent normal zones being found adjacent to typical cirrhotic fibrosis; although a precise morphometric study was not performed in our patients, obstruction of the tiny branches of intrahepatic portal veins was not observed. 2) Histological diagnosis of NRH is difficult and in most cases requires surgical biopsy specimens and specific coloration of the reticulin network. 3) NRH must be considered as a new cause of intrahepatic (sinusoidal or presinusoidal) portal hypertension and/or of chronic anicteric cholestasis. 4) A number of various conditions may be associated with NRH, the most frequent being Felty's syndrome and myeloproliferative disorders. 5) The pathogenesis of NRH remains unknown. 6) Portal diversion generally has a favorable outcome in this disease.
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PMID:[Nodular regenerative hyperplasia of the liver. Study of 15 cases and review of the literature]. 662 10


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