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)

All adult cases of primary intestinal lymphoma seen during the years 1953--77 at Groote Schuur Hospital, South Africa, were reviewed. Seventy percent of patients with solitary lymphoma and 80% with immunoproliferative small intestinal disease were mulatto. Patients in the latter group presented with malabsorption and those with a solitary lymphoma presented with intestinal obstruction. Four of 15 patients tested for the presence of alpha-heavy-chains were found to have alpha-heavy-chain disease. Family studies of potential genetic and immunologic factors showed some significant differences in IgA and IgG levels in the families of two patients with alpha-heavy-chain disease. Elevated alkaline phosphatase of intestinal origin was found in four of six patients with immunoproliferative small intestinal disease and in a high proportion of relatives. Fifty percent of the six patients were of blood group B. Minor blood groups, ABH secretor state and Pi phenotype distribution were similar to those of the control subjects. HLA gene frequency was particularly increased in the HLA-A9 antigen. These studies suggest that genetic factors may be relevant to the pathogenesis of immunoproliferative small intestinal disease.
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PMID:Primary intestinal lymphoma in South Africa. 10 20

A family consisting of eight members in three generations (age 10 months to 53 years) affected with chronic mucocutaneous candidiasis was studied along with three unaffected relatives. Dermatophytosis, loss of teeth and recurrent viral infections were present in some members. Results of tests for endocrinologic, muscle or liver disease, thymoma, iron deficiency, antitissue antibodies and malabsorption were normal in all patients. Antibody function and levels, B cell counts, serum complement, leukocyte enzymes, chemotaxis, phagocytosis and adherence were normal in all members. Plasma inhibitors to lymphocyte transformation and leukocyte inhibitory factor were not found. No unique HLA haplotype or antigen segregated in this family. Evaluation of cell-mediated immunity revealed total cutaneous anergy in three of eight whereas four of the other five had negative lymphocyte transformation and skin tests to Candida but responded normally to other antigens. Leukocyte inhibitory factor was not produced to Candida antigen in all four patients tested. T cell counts were within normal limits in all. Extensive evaluation of all limbs of the immune system in this family revealed a defect in cell-mediated immunity to Candida that appeared to be inherited as a dominant characteristic.
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PMID:Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. 31 85

Juvenile dermatitis herpetiformis occurred in a 20-month-old girl. She had granular lgA, C3, and fibrin bound to the basement membrane zone of the skin by direct immunofluorescence and negative serum antibodies against the skin on indirect immunofluorescence. The HLA typing of peripheral lymphocytes was A1, Aw30, B8, Bw51 without clinical evidence of malabsorption syndrome. A rapid improvement was observed on dapsone therapy. These findings strongly suggest that juvenile dermatitis hepetiformis is a disease entity different from chronic bullous dermatosis of childhood.
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PMID:Juvenile dermatitis herpetiformis. 37 40

Detailed investigations of 9 patients with dermatitis herpetiformis are presented. In all cases cutaneous lesions were controlled by dapsone alone or by dapsone and gluten free diet. Granular IgA deposits were found in 7 patients, linear IgA deposits in one, and C3 component of complement in one. 3 patients out of 8 tested, carried the specific HLA-B8 antigen. Despite an extensive investigation, no malabsorption was detected. Jejunal biopsies were performed in 8 cases. Jejunal villous flattening was observed in one patient. It improved after a 2 months gluten free diet on subsequent jejunal biopsies. D. H. seems peculiar in France as compared with case reports from other countries: low prevalence of gluten sensitive enteropathy; rare occurrence of the specific HLA-B8 antigen; incidence of D. H. seems to be low in France. It is noticeable that french incidence of coeliac disease is low as well. This suggests a genetic difference in the investigated population (low prevalence of HLA-B8 antigen) and/or different alimentary habits, particularly a low dietary gluten amount.
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PMID:[Dermatitis herpetiformis (author's transl)]. 48 15

Three persons in a kindred of 43 had variable expression of a syndrome consisting of immunoglobulin A deficiency, diabetes mellitus, malabsorption, and a common HLA haplotype. Findings from the proband included life-threatening malabsorption; idiopathic intestinal mucosal atrophy with infalmmation; IgA deficiency and antibodies to multiple endocrine organs; insulin-dependent diabetes mellitus; and the major histocomptability antigens HLA-A2, B8, and DW3. In addition to the described syndrome other conditions present in the family include Graves' disease, vitiligo, hypocomplementemia, rheumatic fever, multiple sclerosis, and a high frequency of antibodies to endocrine tissue. Since Graves' disease, diabetes mellitus, and idiopathic Addison's disease have all been described in association with HLS-B8 and DW3, we believe that the occurrence of these diseases in this family suggests that a single immune response gene or gene complex is linked with HLA-B8 and DW3.
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PMID:A syndrome of immunoglobulin A deficiency, diabetes mellitus, malabsorption, a common HLA haplotype. Immunologic and genetic studies of forty-three family members. 57 75

The coeliac disease (CD) or gluten-sensitive enteropathy (GSE) is a permanent intolerance to wheat gliadin and to correlated proteins inducing malabsorption and typical damages of the jejunal mucosa (total or subtotal villous atrophy = SVA) in genetically-predisposed individuals ("DQW2"). A large amount of research has been devoted to CD pathogenesis: the most recent studies, thanks to sophisticated and experimental methods, support the pathogenetic immunological theory and the one of direct cytotoxicity. The correct diagnostic procedure for CD, established in 1970 by the European Society for Pediatric Gastroenterology and Nutrition (ESPGAN), suggested three small bowel mucosal biopsies. In the last years, because of the difficulties of such a practice, the necessity of non-invasive diagnostic approaches has developed; such approaches have been verified in absorption tests (one-hour blood xylose, intestinal permeability methods) and in immunogenetic tests (antibodies antigliadin, anti-reticulin, anti-endomysium, anti 90 KD glycoprotein, anti-human jejunum, HLA I/II antigens). The specific MHC antigens establish CD's incidence in several population and in particular situations, as in first-degree relatives and in diseases associated with CD (dermatitis herpetiformis (DH), insulin dependent diabetes mellitus (IDDM) and other auto-immune syndromes). The specific serum antibodies singly used as first level screening if estimated in combination with absorption tests, reach the highest levels of specificity and sensibility in CD diagnosis. It's anyway fundamental the comparison with at least a typical CD histological feature, caused by a challenge with a sufficient gluten to be carried in dubious cases and in non high auxological risk age (ESPGAN 1989). Adolescence is a period of frequent non compliance with a gluten-free diet and of particular psychological and physical problems: the apparent "gluten insensitivity", typical of teen-agers and adults, recalls the definitions of silent CD and latent CD (iceberg like). In the first case the jejunal mucosa is abnormal and the symptomatology isn't evident. In latent CD, genetically restricted, the mucosa is normal but there are minimal markers of inappropriate immunity to gliadin (at intestinal humoral immunity level) and a possible worsening of histological lesions to the third stage under environmental stimuli. This represents a two-stage model CD. That's why CD is still under-evaluated despite recent statistics reporting an increasing incidence (late and atypical forms). Prevalence rates between 1:300 and 1:4,000 and more are quoted in literature. The necessity of a strict gluten-free diet is confirmed by the evident frequency of lymphoma and by the increased risk of malignancy in untreated CD.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Celiac disease and its diagnostic evolution. Comparisons and experiences in a hospital pediatric department (1975-1992). I]. 152 93

A seropositive white man had follow-up for 16 years with a diagnosis of palindromic rheumatism. Treatment had included parenteral gold, methotrexate, prednisone, hydroxychloroquine sulfate, and penicillamine before diarrhea led to a biopsy-proven diagnosis of Whipple's disease. Clinical and radiographic criteria for ankylosing spondylitis were met. In addition to classic Whipple's arthropathy, he had the combined but singular findings of pancarpal destruction and cervical apophyseal fusion. HLA typing revealed the B7 antigen. This case illustrates the pitfalls in diagnosis of a chronic polyarthritis that has, as a typical feature, a long latency before manifesting its more specific signs and symptoms (ie, diarrhea, malabsorption, and hyperpigmentation). Care should be taken during evaluation of any disease with atypical and nonspecific features (eg, positive rheumatoid factor in a patient with polyarthritis) and one should continue to reevaluate the original impression while confirmatory evidence is lacking. Moreover, the roentgenographic findings of pancarpal narrowing, apophyseal fusion, and advanced iliofemoral joint disease, in addition to sacroiliitis and syndesmophyte formation, challenge the generally held notion that Whipple's arthropathy is a nondestructive joint disease.
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PMID:Whipple's disease with axial and peripheral joint destruction. 169 47

During the period 1985-88, 30 children with a chronic blistering dermatosis were studied. Of these 25 were found to have chronic bullous dermatosis of childhood (CBDC) and five had bullous pemphigoid (BP). No case of dermatitis herpetiformis (DH) was seen in the same period. Except for the difference in immunofluorescence (IMF) there were no definite clinical, histological or therapeutic differences between the two groups. All the children were Africans with the exception of one Indian girl. Their ages ranged from 1 year to 12 years with a mean of 5 years. The females outnumbered the males in a ratio of 3:2. All children had a generalized eruption consisting of large tense blisters arising on normal skin. The blisters were more profuse on the lower trunk, pelvic region and limbs. Face and scalp were also affected. Histological features of BP and DH were seen. Direct IMF in the CBDC patients showed linear deposits of IgA at the basement membrane zone (BMZ) while linear deposits of IgG were seen in the BP group. Complement and IgM were also seen in some cases in both groups. Sixty per cent of the CBDC patients showed IgA BMZ antibodies by indirect IMF. There were no symptoms or signs of malabsorption. Serum vitamin B12 and folate levels were normal. HLA studies showed the B-8 antigen in five of the 20 patients studied. Therapy was difficult in most cases. All patients haemolysed on therapeutic doses of dapsone, sulphapyridine and/or prednisone had to be added. Follow-up was generally poor as six patients failed to return after discharge from hospital.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chronic bullous dermatosis of childhood--clinical and immunological features seen in African patients. 193 64

IgA and IgG antigliadin antibodies were measured in 498 patients with insulin dependent diabetes mellitus and no history of intestinal malabsorption. Thirty patients had abnormal concentrations of antigliadin antibodies; 22 of these had an intestinal biopsy carried out and 16 of the 22 had subtotal villous atrophy suggestive of coeliac disease (prevalence 3.2%). There were no significant differences between patients with coeliac disease and diabetes and diabetic patients with normal IgA antigliadin antibodies in any of the nutritional variables measured, duration of diabetes, and mean insulin requirement. The mean age of onset of diabetes and attainment of expected height for age were both significantly lower in the patients with both diseases. Typing HLA classes I and II was done in 242 patients. The incidence of HLA-B8, DR3, and DQW2, which are commonly associated with both the diseases, is increased when both are present.
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PMID:Screening of diabetic children for coeliac disease with antigliadin antibodies and HLA typing. 203 7

We report four patients (two children, one adolescent, and one adult) having normal small bowel mucosa shown on a biopsy specimen taken before the initial diagnosis of coeliac disease was made. The first biopsy was undertaken in two cases because of suspected malabsorption, in the third because of suspected dermatitis herpetiformis, and in the fourth as part of a coeliac disease family study. After a further 2.6 to 9 years on a diet containing gluten, small bowel villous atrophy with crypt hyperplasia compatible with coeliac disease was found on a second biopsy specimen. The HLA type of the patients was that typical for coeliac disease; all were DR3 positive. Within the families three other patients with coeliac disease have been diagnosed, two earlier and one at the time the first biopsy was undertaken. Four other HLA-DR3 positive haploidentical first degree relatives were found and had biopsies. All four had normal small bowel villous architecture, one had an increased intraepithelial cell count, and another was positive for reticulin and endomysium antibodies. Coeliac disease may exist latent in patients having normal mucosa when eating a normal diet containing gluten.
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PMID:Normal small bowel biopsy followed by coeliac disease. 224 6


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