Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-yr-old black man with cystic fibrosis and cirrhosis developed symptoms of osteomalacia and hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and low circulating 25-hydroxyvitamin D (25-OHD). Serum 1,25-dihydroxyvitamin D (1,25-[OH]2D) was within the normal range. Iliac crest bone biopsy confirmed the diagnosis of osteomalacia. Oral administration of 50,000 IU of vitamin D2 failed to relieve symptoms or raise serum 25-OHD levels to normal. Intramuscular vitamin D2, 10,000 IU every 8-12 week, improved symptoms, raised serum 25-OHD to normal, and increased circulating 1,25-[OH]2D to values five times normal. Over the next 10 mo circulating 1,25-[OH]2D remained elevated despite normalization of serum calcium, phosphorus, and parathyroid hormone. Repeat bone biopsy 1 yr after parenteral vitamin D showed healing of the osteomalacia. Malabsorption of vitamin D appears secondary to profound steatorrhea due to pancreatic insufficiency and secondary biliary cirrhosis. Although extensive hepatocellular disease was present, hepatic conversion of vitamin D to 25-OHD was intact. Both high and low circulating 1,25-[OH]2D levels during active osteomalacia have been reported; initially, the level was in the normal range and higher values in this patient occurred with repletion of 25-OHD substrate. This study shows that symptomatic osteomalacia may be a major manifestation of cystic fibrosis in those patients surviving into adulthood. Measurements of serum 25-OHD in cystic fibrosis patients may identify those who should receive supplemental vitamin D.
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PMID:Vitamin D metabolism and osteomalacia in cystic fibrosis. 387 14

During the past 6 years, 25 consecutive patients with esophageal variceal hemorrhage were treated by esophageal endosclerosis (direct injection of varices with a sclerosing agent). The primary disease in the 25 children was portal vein thrombosis (11 patients), biliary atresia (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient). Thirteen patients were treated during acute, major variceal hemorrhage. Esophageal endosclerosis was repeated at regular intervals until all esophageal varices were obliterated. Twenty-one patients completed therapy. Four patients died: one of a complication of therapy and three of the primary disease. Other than the one death, complications were minor. Recurrent esophageal variceal hemorrhage has not been encountered in follow-up from 9 months to 6 years after completion of therapy.
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PMID:Esophageal endosclerosis in children. 387 48

IgA-associated immunopathologic renal injury has been reported in patients with cirrhosis. In an effort to elucidate the pathogenesis of this phenomenon, the livers and kidneys obtained at autopsy from a group of patients with cystic fibrosis were studied; these patients were selected because of their broad spectrum of liver abnormalities. On the basis of histologic examination of sections of liver, the patients were divided into two groups: Group I (20 patients) included patients with focal biliary cirrhosis and multilobular biliary cirrhosis; all had anatomic distortion of the biliary system, and many had cholestasis. Group II (28 patients) showed no bile duct anomalies. Immunofluorescence studies of the corresponding kidneys for immunoglobulin, complement, and free secretory component (FSC) revealed significantly more numerous IgA-containing glomerular deposits in group I (P less than 0.02). Although FSC was virtually absent in these deposits, significant in vitro binding of this protein revealed the polymeric nature of the glomerular IgA. This is consistent with previous observations of elevated serum levels of polymeric IgA, which forms the dominant component of glomerular deposits in cirrhotic patients. Since IgA glomerular deposition occurred in patients with focal biliary and no hepatocellular dysfunction, it seems that the source of this polymeric IgA is related to its impaired serum clearance by a distorted and stagnant bile duct system. However, the mechanism that leads to the deposition of this immunoglobulin in the glomeruli and other tissues remains conjectural.
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PMID:IgA-associated glomerular deposits in liver disease. 390 78

Twenty-six patients, mean age 20.5 years (range 11-33 years) at last assessment or death, attended an adult cystic fibrosis clinic between 1975 and 1983. Twenty-one presented in infancy, and 5 later (3-17 years). Most morbidity was due to recurrent respiratory infection and 5 of the 7 deaths were from respiratory failure. Cor pulmonale occurred in 4 patients, pneumothorax in 3 and severe haemoptysis necessitating lobectomy in 2. Declining spirometric values and persistent isolation of Pseudomonas aeruginosa from sputum samples were associated with a poor prognosis. Minor gastrointestinal symptoms were common (19 patients). Four patients developed intestinal obstruction. Six patients had abnormal liver function tests and one patient died from hepatic cirrhosis. Diabetes was diagnosed in 3 patients and 9 patients experienced joint pains. The prognosis and quality of life for patients with cystic fibrosis appear to be improving, and all but 2 of the patients attending the clinic are at school, university or are employed.
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PMID:Cystic fibrosis--a review of 26 adolescent and adult patients. 393 89

The fasting serum concentrations of primary bile acids were determined in 30 patients with cystic fibrosis, aged 1 to 27 years, and correlated to liver disease. Cholic (fs-C) and chenodeoxycholic (fS-CDC) acids were determined by radioimmunoassays. Two patients had biopsy-proven liver cirrhosis, 13 had portal fibrosis. 8 had minor different pathological changes, and 7 had normal liver morphology. Standard liver function tests were of no help in evaluating liver disease in these patients. Eight patients had increased fS-C and 15 had increased fS-CDC, not correlated to liver morphology. Serum bile acid determination seems to be of no value in evaluating the extent of liver disease in cystic fibrosis. The more frequent and more marked increase of fS-CDC than of fS-C suggests that there is another hepatic clearance of bile acids in CF and/or that intestinal factors have a greater influence on the serum bile acid concentrations in this disease.
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PMID:Fasting serum bile acid levels in relation to liver histopathology in cystic fibrosis. 400 47

74 patients with cystic fibrosis aged 1-19 years were assessed prospectively for 1-7 years for evidence of liver involvement. 20 of these patients were referred primarily because of hepatic problems. 3 of 4 with neonatal hepatitis recovered. Chronic active hepatitis developed in a further child but resolved spontaneously. 6 patients had abnormal liver-function tests without clinical evidence of liver disease. In 18 cirrhosis was detected at age 4-13 years. Liver disease was stable in these except terminally in 3 with cor pulmonale. The principal hepatic problem was variceal bleeding, which occurred in 6 patients. 50% of bleeds followed aspirin ingestion. This drug therefore should be avoided in such patients. 13 had hypersplenism. 2 had severe splenic pain necessitating splenectomy with lienorenal shunt, which was performed also in 2 patients who had bled. 3 remain well up to 5 years later. In 3 patients seen in the past 3 years injection sclerotherapy has controlled bleeding. This technique was well tolerated without the pain associated with, or intensive physiotherapy necessary after, shunt surgery; and this may be the method of choice for controlling variceal bleeding in cystic fibrosis.
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PMID:Hepatic complications of cystic fibrosis. 611 50

Neurological syndromes similar to those associated with abetalipoproteinaemia or Friedreich's ataxia developed in four patients with chronic steatorrhoea, two of whom had cystic fibrosis and two chronic cirrhosis of childhood. Serum concentrations of vitamin E were virtually undetectable in all four patients. Substantial clinical improvement occurred in one patient after restoration of normal vitamin E levels by parenteral therapy. The findings suggest that spinocerebellar degeneration may be secondary to severe and prolonged vitamin E deficiency.
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PMID:Association of spinocerebellar disorders with cystic fibrosis or chronic childhood cholestasis and very low serum vitamin E. 611 19

An oyster gill ciliostatic factor material has been isolated from the saliva of patients with cystic fibrosis (CF) by utilizing its ability to bind to alpha-amylase. It was quantitatively assayed by its ability to reversibly inhibit rabbit muscle glycogen debranching enzyme. The specificity of this CF factor material was investigated by comparing activities from the saliva of CF homozygotes (patients) varying in age, sex, and the severity of the disease; CF obligate heterozygotes (carriers); normal control subjects who had no family history of CF; non-CF asthmatic and allergic bronchitis patients; non-CF immunologically deficient patients with chronic respiratory problems; non-CF juvenile diabetic patients; non-CF pancreatic insufficiency patients; non-CF patients with obstructive liver cirrhosis; and non-CF patients with ectodermal dysplasia. The results show that the CF factor material isolated from CF saliva is specific to subjects with cystic fibrosis and is not associated with similar non-CE chronic disease states, nor is it produced as a result of an organ pathology associated with CF. There was no correlation between the amount of factor present in an individual CF homozygote sample and the severity of the disease. In the case of both the CF homozygote and heterozygote samples, there was also no correlation in either age or sex and the amount of factor present. The degree of inhibition produced by CF homozygotes compared to CF heterozygotes is characteristic of the autosomal recessive mode of inheritance of CF. This finding appears to associate the isolated CF factor material with the affected CF gene and suggests that the factor material is related in some way to the genetic lesion in CF.
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PMID:Specificity of an isolated salivary factor material to cystic fibrosis. 616 57

Antibodies to a liver-specific lipoprotein complex (LSP) were determined by radioimmunoassay in the sera of 65 children with possible chronic liver disease. Thirteen had "autoimmune" chronic active hepatitis (CAH), 21 alpha 1-antitrypsin deficiency PiZ (alpha 1-ATD), all having significant liver disease, while 10 of 31 children with cystic fibrosis (CF) had abnormal biochemical tests of liver function, six having cirrhosis. Sera from 12 (92%) of 13 untreated CAH patients contained detectable anti-LSP antibodies, the highest titres occurring in those with anti-liver/kidney microsomal or smooth muscle antibodies. Titre of anti-LSP antibodies correlated with piecemeal necrosis of periportal hepatocytes in liver biopsies, but not with standard biochemical tests of liver function or serum immunoglobulin concentrations. The incidence of LSP antibodies fell as liver damage improved with immunosuppressant therapy, being positive in 18 of 26 sera from children in whom the transaminases were still above normal, but positive in only two of 20 in whom transaminase values were within the normal range (chi 2 = 16, p less than 0.001). Sera from two of 31 patients (6%) with CF contained anti-LSP antibodies as did sera from six of 21 patients with alpha 1-ATD. Antibody concentrations were lower than in CAH, and in alpha 1-ATD the presence of anti-LSP could not be correlated with the presence or absence of piecemeal necrosis on liver biopsy. Our data suggest that autoimmune mechanisms involving antibody to hepatocyte membrane components have a role in the pathogenesis of chronic liver disease in autoimmune CAH in children as in adults.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Antibodies to liver-specific lipoprotein in children with chronic liver disease due to "autoimmune" chronic active hepatitis, cystic fibrosis, and alpha 1-antitrypsin deficiency. 633 53

Cystic fibrosis is the most common fatal inherited disease of Caucasians. At present, cystic fibrosis accounts for most cases of chronic progressive pulmonary disease and for many other clinical features in the first three decades of life. Thus, it is a challenge to both pediatricians and internists, particularly chest physicians. The diagnosis is based on the triad of chronic obstructive pulmonary disease, pancreatic insufficiency, and increased levels of electrolytes in the sweat. The cardinal test for confirmation of the diagnosis is the "sweat test," which is an excellent discriminant for cystic fibrosis, even in adults. Ancillary features of cystic fibrosis may be of diagnostic assistance (eg, nasal polyposis, Pseudomonas aeruginosa in sputum, azoospermia, and others). Treatment of the pulmonary disease must be emphasized. Choice of antibiotics should be based on the results of sputum culture, but P aeruginosa is the most common pathogen. Removal of secretions by regular postural drainage and percussion is an integral part of the program. Pneumothorax, massive hemoptysis, cor pulmonale, and other complications may be encountered. Sinusitis is almost universal, and nasal polyposis is frequently present. Pancreatic insufficiency occurs in over 80 percent of the patients with cystic fibrosis and may result in intestinal malabsorption. Massive salt loss through the sweat in hot weather, a distinctive type of biliary cirrhosis without jaundice, gallbladder abnormalities, cholelithiasis, and diabetes mellitus also may be found. Of special importance are intestinal obstructive complications (meconium ileus in newborn infants with cystic fibrosis and intestinal obstruction due to fecal accumulation or intussusception in adults). Azoospermia is present in 95 percent of men and there is reduced fertility in women; however, pregnancy does occur in cystic fibrosis. This chronic and ultimately fatal disease produces a predictable set of psychosocial complications.
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PMID:Diagnosis and treatment of cystic fibrosis. An update. 637 70


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