Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions.
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PMID:Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa. 9 54

A cystic fibrosis (CF) clinic for adults was established in 1977. We have reviewed the data on 164 patients who attended between 1977 and 1989. Twenty four patients had died, 11 being over 20 years of age at the time of death. Of the 140 patients still alive, 61% were male and 53% were aged over 20 years. Only 55% were diagnosed by one year and 88% by ten years. Almost all patients had respiratory symptoms and sputum culture yielded pseudomonas species in 69%. Other respiratory problems included major haemoptysis and pneumothorax, each in 10%. We found a wide range of respiratory impairment among older patients. Among 33 patients aged over 23 years, the mean (+/-S.D.) percent predicted FEV1 and FVC were 53.3% (+/- 18%) and 71.4 (+/- 20%) respectively. Mean weight in this group was 92.5% (+/- 14) of predicted. Malabsorption occurred in most patients and meconium ileus equivalent occurred in 34%. Other complications were clinical hepatomegaly (16%), diabetes mellitus (9%) and arthropathy (20%). Most patients were taking continuous antibiotics by mouth (89%) and by nebuliser (48%), beta-2 agonists by inhaler (57%) and oral steroids (29%). Almost all were taking multivitamins, pancreatic replacement therapy and multiple nutritional supplements. The number of CF "bed days" grew 12 fold since 1979 and the mean stay in hospital was double the hospital mean. The economic impact was such that over 1/4 of the annual hospital antibiotic budget was expended on CF patients.
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PMID:Cystic fibrosis in adolescents and adults. 181 18

A cystic fibrosis (CF) clinic for adults was established in 1977. We have reviewed the data on 164 patients who attended between 1977 and 1989. Twenty four patients had died, 11 being over 20 years after time of death. Of the 140 patients still alive, 61% were male and 53% were aged over 20 years. Only 55% were diagnosed by 1 year and 88% by 10 years. Almost all patients had respiratory symptoms and sputum culture yielded Pseudomonas species in 69%. Other respiratory problems included major haemoptysis and pneumothorax, each in 10%. We found a wide range of respiratory impairment among older patients. Among 3 patients aged over 23 years the mean (+/- S.D.) percent predicted FEV1 and FVC were 53.3% (+/- 18%) and 71.4% (+/- 20%) respectively. Mean weight in this group was 92.5% (+/- 14) of predicted. Malabsorption occurred in most patients and meconium ileus equivalent occurred in most patients and meconium ileus equivalent occurred in 34%. Other complications were clinical hepatomegaly (16%), diabetes mellitus (9%) and arthropathy (20%). Most patients were taking continuous antibiotics by mouth (89%) and by nebuliser (48%), beta-2 agonists by inhaler (57%) and oral steroids (29%). Almost all were taking multivitamins, pancreatic replacement therapy and multiple nutritional supplements. The number of CF "bed days" grew 12 fold since 1979 and the mean stay in hospital was double the hospital mean. The economic impact was such that over 1/4 of the annual hospital antibiotic budget was expended on CF patients.
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PMID:Cystic fibrosis in adolescents and adults. 189 94

Crohn's disease is a chronic inflammatory granulomatous disorder affecting any part of the gastrointestinal tract, particularly the terminal ileum and the colon. Familiar complications are strictures, fistulae, perforation, haemorrhages and malabsorption due to multiple resections. A patient with two rare complications of Crohn's disease is described. A 16-year-old female with ileocaecal Crohn's disease presented with anaemia and ileus. This ileus was caused by some 40 tablets of ferrosulphate with a non-soluble matrix, in the presence of an existing stenosis of the ileum due to Crohn's disease. An ileocaecal resection was performed. During an exacerbation of Crohn's disease she developed hepatic vein thrombosis with a Budd-Chiari syndrome (upper abdominal pain, hepatomegaly and ascites). Prescription of tablets with a non-soluble matrix is contraindicated in patients with a partial stenosis of the intestine. Patients with active Crohn's disease are predisposed to thromboembolic complications. Hepatic vein thrombosis in our patient may have been the result of hypercoagulability during the exacerbation of her disease.
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PMID:[Intestinal obstruction caused by non-absorbable tablets and Budd-Chiari syndrome in a patient with Crohn's disease]. 204 72

This article presents electronmicroscopy evidence of retrovirus-like particles with bar shaped cores in salivary and prostate glands as well as testicles of 2 acquired immunodeficiency syndrome (AIDS) patients. The 1st case, a 38-year old black male homosexual, presented in 1982 with diarrhea, malabsorption, and weight loss. In the following 1 1/2 years, he experienced recurrent Candida esophagitis, cutaneous and pulmonary Kaposi's sarcoma, Pneumocystis carinii pneumonia, and cytomegalovirus. Autopsy in 1984 revealed residual Kaposi's sarcoma, disseminated cytomegalovirus, and M avium-intracellulare. The 2nd case, a 31-year old white male homosexual, presented in 1984 with Pneumocystis carinii penumonia and subsequently developed persistent fever, hepatomegaly, headaches, blurred vision, progressive liver function deterioration, and disseminated histoplasmosis infection. Autopsy in 1984 revealed an overwhelming disseminated histoplasmosis infection. Tissues taken at postmortem were examined by electron microscopy. Particles that conformed with the morphologic characteristics of AIDS retrovirus (a size of about 140 nm, a round shape with a double membrane, and an elongated core) were detected in the prostate gland of patient 2 and in the salivary glands and testes of both patients. This finding suggests that saliva and semen may be body fluids by which transmission of the AIDS virus occurs.
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PMID:Retrovirus-like particles in salivary glands, prostate and testes of AIDS patients. 298 94

Three hundred and sixteen patients with cystic fibrosis were seen at the Brompton Hospital during 1965-83; 178 (56.3%) of them were male and 136 female, and their ages ranged from 12 to 51 years. Most patients presented in infancy with respiratory symptoms and malabsorption, but 19 (6%) were diagnosed in adult life, three in their 30s. Pulmonary disease was almost universal (99.7%), being responsible for 97% of all deaths and three quarters of hospital admissions. All patients had developed a productive cough by the age of 21 and over half before the age of 5. Many complained of wheezing, but reversible airflow obstruction was present in only 40% of those tested. Minor haemoptysis was very common (62%), but major episodes less so (10%). Pneumothorax was seen in 61 cases (19%), and was often recurrent. Some irreversible airflow obstruction was present in all patients with pulmonary disease. Two patients have been followed for over 20 years without showing appreciable decline in lung function. Thirty five patients (11%) had no symptoms of malabsorption. Acute meconium ileus equivalent was seen in 16% and a chronic partial obstruction with episodic symptoms in a further 19%. Diabetes mellitus developed in 36 patients, 13 of whom were insulin dependent. Hepatomegaly was common (29%), often occurring without abnormal results in biochemical tests of liver function; only 1% of patients developed portal hypertension with varices and ascites. Skin reactions to at least one common allergen, including Aspergillus fumigatus, were positive in 70%, but very few patients suffered from hay fever or eczema. One hundred and twenty one patients have died, 97% from infection or other pulmonary complications, and 195 were alive in December 1983 (mean age 23 years). Seventy eight per cent of patients were in full time education or full or part time employment, or were housewives, and only 41 were unemployed for reasons for health. Many patients are married and 10 women have borne children. Most patients were admitted to hospital only three or four times during the period of follow up and 50 individuals (16%) have never been in hospital at all. The improvement in prognosis and quality of life for adults with cystic fibrosis should encourage a positive attitude in those who care for them.
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PMID:Cystic fibrosis in adolescents and adults. 343 96

The clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile ducts are described. All presented in the first 5 months of life, 21 with jaundice, two with spontaneous bleeding due to vitamin K malabsorption in addition to jaundice, two with pruritus, and two with failure to thrive. Interlobular bile ducts were abundant in liver biopsies from five (18% of cases) in the first 6 months of life. The degree of portal fibrosis and cellular infiltrate was mild in all except three patients. Clinically significant heart lesions occurred in 52% but only 22% had peripheral pulmonary stenosis. Characteristic facial appearances were present in only 70%; embryotoxon and vertebral anomalies were present in 56 and 33%, respectively. Two infants died of cardiovascular complications, one of alimentary bleeding and one of progressive liver disease. Complications of vitamin K deficiency occurred in 15%, vitamin D deficiency in 30%, and vitamin E deficiency in 37%. Survivors at ages of 19 months to 16.5 years had considerable morbidity with pruritus occurring in 70%, jaundice in 48%, xanthomas in 30%, 74% having hepatomegaly and 63% splenomegaly. All had abnormal biochemical tests of liver function, 90% had growth retardation, and 50% developmental delay. We conclude that differentiation from extrahepatic biliary atresia can be difficult if biliary flow cannot be demonstrated. Prevention of fat-soluble vitamin deficiency is essential. Further research is required to decrease the morbidity associated with this syndrome in infancy.
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PMID:Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. 368 72

A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.
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PMID:High liver glycogen in hereditary fructose intolerance. 528 93

The authors report the case of a 32-year old woman admitted for hepatomegaly, weight loss, and moderate diarrhea. Liver function tests showed anicteric cholestasis with slight increase in serum level of transaminases. Liver biopsy demonstrated massive steatosis. Biological and radiological investigations of the small intestine showed a malabsorption pattern. Stool fat excretion was 54 g per day. Duodenal biopsies disclosed total villous atrophy. A ten-day treatment with metronidazole (1,5 g per day), followed by a gluten-free diet, resulted in rapid improvement of hepatic and intestinal symptoms. This case report shows that: 1) adult celiac disease may be the cause of severe steatosis; 2) anicteric cholestasis with or without hepatomegaly during the course of adult celiac disease may be secondary to steatosis, as well as primary biliary cirrhosis or malignant infiltration of the liver; 3) bacterial overgrowth should be searched and eventually treated in the case of massive fatty liver occurring in adult celiac disease.
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PMID:[Massive hepatic steatosis disclosing adult celiac disease. Study of a case and review of the literature]. 685 13

A 4-week-old male infant was admitted to the hospital with acute gastrointestinal bleeding and marked coagulopathy secondary to vitamin K malabsorption in the presence of cholestasis. Physical examination revealed hepatomegaly and cutaneous haemangiomas. Ultrasonography, CT, and MRI demonstrated a multifocal vascular process and allowed the diagnosis of infantile hepatic haemangioendothelioma to be made without the use of more invasive diagnostic procedures. To avoid high-output congestive heart failure, the patient was treated with oral corticosteroids. After 5 months, rapid involution of the vascular malformations ensued. At age 2 years, a magnetic resonance scan confirmed complete resolution of the hepatic haemangioendothelioma.
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PMID:Imaging diagnosis and follow-up of infantile hepatic haemangioendothelioma: a case report. 815 13


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