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)

Patients with cystic fibrosis (C.F.) showed raised serum levels of alpha-fetoprotein (AFP). A moderate but significant increase in serum AFP was present in their parents and some siblings. There was no correlation between the clinical severity of the disease and serum AFP concentration. Samples from control groups with gluten-induced malabsorption and bronchiectasis had normal levels. Persistent synthesis of AFP may be an associated marker of C.F. genes, and estimation of serum AFP might help in detecting heterozygote carriers in families at risk.
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PMID:Serum alpha - fetoprotein levels in patients with cystic fibrosis and their parents and siblings. 4 79

Cystic fibrosis is an inherited, multisystem disorder characterized by an abnormality in exocrine gland function. It leads to chronic pulmonary disease in most cases and pancreatic insufficiency in 85 percent of patients. Although this disease is not uncommon in Caucasians, it has been considered very rare among Japanese. The majority of patients are diagnosed in infancy or childhood. The patient in this case report was a 45-year-old Japanese man who had not been diagnosed as having cystic fibrosis. This patient had recurrent episodes of pulmonary infection that started in childhood, and plain films of the chest showed increased interstitial markings, hyperaeration, and bronchiectasis. CT of the upper abdomen showed a generally enlarged pancreas with complete fatty replacement. Serum and urine pancreatic enzyme levels were low, suggesting pancreatic insufficiency. Repeated sweat tests were positive. A roentgenologic skeletal survey showed general demineralization, which may be multifactorial. In this case, it was concluded that vitamin D deficiency caused by vitamin D malabsorption and/or insufficient sunlight exposure was mainly responsible for the demineralization and that chronic respiratory acidosis might also be partially responsible.
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PMID:A Japanese adult case of cystic fibrosis causing bone demineralization. 141 May 64

Common variable hypogammaglobulinemia (immunodeficiency), a disorder characterized by late-onset immunoglobulin deficiency and lack of humoral immunity, has a variable association with bronchiectasis, cholelithiasis, nodular lymphoid hyperplasia, gastrointestinal neoplasia, megaloblastic anemia, and malabsorption. The patient described in this report had all of the above except neoplasia. In addition, he had calcium oxalate renal stones probably secondary to his malabsorption. The first case demonstrating the beneficial effect of home hyperalimentation in patients with severe malabsorption refractory to other treatments is described. Home hyperalimentation overnight allows the patient freedom for daily activities while also being more cost-effective than in-hospital parenteral nutrition.
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PMID:Home hyperalimentation for common variable hypogammaglobulinemia with malabsorption secondary to intestinal nodular lymphoid hyperplasia. 311 40

Biweekly 200 mg/kg infusions of immune globulin (Gamimune) were given to a 46-year-old woman with severe common variable immunodeficiency, bronchiectasis, and chronic diarrhea with malabsorption. Failure to achieve therapeutically effective serum IgG concentrations in the face of fulminant sepsis was accompanied by a shortened serum IgG half-life of 10.6 days. Currently recommended doses of 200 mg/kg may prove inadequate in very ill patients with sepsis and malabsorption.
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PMID:Intravenous immune globulin therapy. Treatment of a patient with severe immunodeficiency, chronic malabsorption, and fulminant septicemia. 392 22

We made clinical and immunologic observations of 30 children with common variable hypogammaglobulinemia. The mean age at diagnosis was 10.5 years, five years after clinical onset. Diagnosis was initially made based on a history of recurrent otobronchopulmonary infections, diarrhea, or both. The most common complications included short stature, bronchiectasis, and malabsorption, often associated with giardiasis or sprue. Nine patients had associated autoimmune diseases (eg, atrophic gastritis, arthritis, and hemolytic anemia). Three patients died, one of chronic respiratory insufficiency, one of chronic persisting hepatitis, and one of osteogenic sarcoma. Humoral and cellular immune functions of all patients were examined.
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PMID:Common variable hypogammaglobulinemia in children. Clinical and immunologic observations in 30 patients. 660 51

A ten year old boy was referred to the allergy clinic due to a chronic history of upper respiratory infections, otitis media, recurrent sinusitis, wheezing and chronic cough that initiated at six years of age. He did have some very small lymph nodes in the cervical area. Serum immunoglobulins were very low which suggested the diagnosis of a common variable immuno-deficiency, a disease with features of increased susceptibility to infection, diarrhea, malabsorption and major complications that include bronchiectasis, autoantibody formation, and autoimmune disease. The patient received IVIG and has doing well.
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PMID:[Common variable immunodeficiency. Report of a case and review of the literature]. 898 47

Common variable immune deficiency (CVID) is characterized by low immunoglobulin levels and recurrent infections in patients with a period of normal immune function several years after birth. It is associated with diarrhea, malabsorption, bronchiectasis, and lymphoreticular malignancies. Radiation-induced chromosome instability may contribute to the high degree of susceptibility to neoplasia. Peripheral blood lymphocyte cultures were obtained from six patients with CVID and the healthy control group matched by age and sex. The groups did not differ in the frequency of spontaneous chromosome aberrations. After exposure to X-ray radiation, mitotic indices were found to be significantly low and incidence of chromosomal alterations were high in the CVID group. We conclude that chromosomes of cells from patients with CVID are significantly more radiosensitive than those of controls. Thus these patients must be protected from unnecessary X-ray examinations and in case of radiosensitive tumour, the dose of irradiation should be carefully monitored.
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PMID:In vitro chromosomal radiosensitivity in common variable immune deficiency. 947 80

We present a case report and review of the literature that illustrates many key features of patients with common variable immunodeficiency (CVID). These patients frequently present with repeated infections with a variety of different microorganisms. Recurrent sinopulmonary infections can lead to serious chronic complications such as bronchiectasis, and gastrointestinal infections can result in malabsorption. In addition to serious infection, CVID is associated with a number of comorbid disorders including a variety of autoimmune diseases and neoplasms. Here, we provide an illustrative case report and discuss the primary features and therapy for patients with CVID.
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PMID:Common variable immunodeficiency. 1189 36

Cystic fibrosis (CF) is the most commonly occurring lethal autosomal recessive disorder. The gene defect causes defective sodium and chloride transport across epithelial cells of the respiratory, hepatobiliary, gastrointestinal and reproductive tracts, resulting in thick mucus secretions. In the respiratory tract, mucus traps bacteria, causing repeated lung infections, progressive bronchiectasis and eventual death due to respiratory failure. In the gastrointestinal tract, mucus prevents pancreatic enzymes reaching the gut, leading to nutrient malabsorption. Careful nutritional management has a dramatic effect on growth and survival rates in CF. Appropriate nutritional support includes pancreatic enzyme replacement therapy, a high-fat/high-energy diet and essential nutrient supplementation, specifically fat-soluble vitamins and essential fatty acids (EFA). Long-term studies are required to examine the effects of nutritional interventions on key clinical outcomes in CF, such as the rate of decline of lung function. The use of circulating markers to assess the influence of nutritional therapy allows short-term intervention studies to predict the potential for clinical improvements. This article provides an overview of the biomarkers useful in the prediction of the efficacy of nutritional therapy on improvements in quality and quantity of life in CF.
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PMID:Circulating markers to assess nutritional therapy in cystic fibrosis. 1569 87

The report deals with the case of a 10-year-old girl with chronic cystic fibrosis. She has been repeatedly treated at the hospital. She has been hospitalized due to respiratory deterioration. Cystic fibrosis is a rare disease, inherited autosomaly recessively, but is very complex in terms of diagnostic and treatment (2). The diagnosis is confirmed based on a clinical picture of the child, measure of Chloride in the sweat, chest X-ray, CT thorax, laboratory findings--genetic confirmation CFTR ( cystic fibrosis transmembrane conductance regulator) genes (3), which result in the production of hyper-viscous mucus and chloride malabsorption in the sweat glands ducts (5,6). Bronchial thickening and plugging and ring shadows suggesting bronchiectasis, segmental or lobar atelectasis are often. Computer tomography of the chest can be used to detect and localize thickening of bronchial airways walls, mucus plugging, hyperinflation and early bronchieactasiae. Pulmonary therapy: the object is to clear secretions from airways and to control infection (7). The diagnosis is originally set when she was 4 years old. She is now admitted due to a deterioration of the main disease. Day before admission in the hospital had a higher bodily temperature, cough and difficult breathing. She already treated conservatively (Ceftazidim, Ceftriakson, Kloksacillin) Since the girl is a chronic patient with bronchiectasie chronic walls of bronchi changes full of the mucus, who is not responding to conservative treatment (antibiotics), therapeutic and diagnostic flexible bronchoscopy had to be performed, resulting in a gram-negative bacteria pseudomonas aeruginosa--a typical bacteria for chronically sick C. F. patient. A pseudomonas therapy was prescribed according to the sensitive antibiogram, during which bronchoscopy was given locally on changes mucous pulmozyme and garamycin. Flexible bronchoscopy was performed as therapeutic. Local bronchoscopy findings:by aspiration of tracheo-bronchal truncus it was found hyperemia and a lot of mucous sticky secretion inside of tracheobronchal tree, especially middle lobe right side, lingual and basals part of the lungs. It was performed broncho-alveolar lavage and given steroids on the place of changed inflamed mucous membrane of the bronchi. It was also given pulmozyme to destroid mucous and make better spontaneously expectorations. Control chest x ray was performed and it was better.
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PMID:Therapeutic flexible bronchoscopy in child with cystic fibrosis. 1605 60


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