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)

A personal series of 28 cases of malabsorption with villopathy (22 Gee, 1 Whipple, 1 alpha-chain, 1 hypogammaglobulinaemia, 3 not yet diagnosed) is presented. The response to a gluten-free diet is the essential clue to diagnosis. Where sensitivity is not found, diagnosis becomes difficult and requires careful immunological, histopathological and parasitological investigation, which is not always conclusive. The main features of the series are indicated, along with the criteria employed in the diagnosis of some unusual forms.
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PMID:[28 cases of malabsorption syndromes with villopathy]. 6 68

The patients studied were diagnosed as suffering from alpha-chain disease by their clinicopathological features, malabsorption findings, X-ray, and presence of abnormal alpha-chain protein in their serum. The objective of the study was to determine any possible defect of the immune system in such patients. The rosette technique and surface immunofluorescence were used to enumerate the circulating T and B lymphocytes in these patients. They were also skin-tested with tuberculin and given sensitizing doses of dinitrochlorobenzene. Their serum immunoglobulins were also quantitated. It was found that the proportion of circulating B lymphocytes was much higher than normal, whereas that of T lymphocytes was lower than normal. Furthermore, they could not be sensitized to DNCB and their skin test to tuberculin was negative. It was concluded that the disease was a B-cell disease of IgA type, associated with low level of cellular immunity.
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PMID:T and B lymphocytes in alpha-chain disease. 41 62

Ten cases of primary upper small-intestinal lymphoma associated with alpha-chain protein in serum were discovered in a prospective study of the sera of patients with immunoproliferative small-intestinal disease (IPSID). Patients were mostly young males presenting with abdominal pain, weight loss, and diarrhea and showing laboratory evidence of carbohydrate, fat, and vitamin B12 malabsorption and hypoalbuminemia. The more frequently encountered pathologic abnormality was a diffusely nodular jejunal mucosa produced by a plasmacytic infiltrate of variable cell maturity involving a varible depth of small bowel wall with or without involvement of the mesenteric or para-aortic-lymph node complex and, in one instance, the liver. A less frequent picture included circumferential ulcerative and constrictive transmural tumors of the upper small intestine produced by a malignant lymphoma with involvement of abdominal lymph nodes. Small-intestinal surface epithelial abnormalities, a dense mantle of mature plasma cells overlying the lymphoma, a pronounced follicular lymphoid hyperplasia adjacent to and at distances from the lymphoma were other features of note in our IPSID cases associated with alpha-chain protein.
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PMID:Primary upper small-intestinal lymphoma and alpha-chain disease. Report of 10 cases emphasizing pathological aspects. 41 96

The clinical, biochemical, immunological and histopathological features in a patient with alpha-chain disease are described. The patient, a 20-year-old Coloured man, presented with severe steatorrhoea, malabsorption, abdominal pain and progressive general deterioration. An heterogeneous abnormal band with IgA immunochemical specificity was detected on electrophoresis of the patient's serum and urine. This protein was identified as free alpha-chain and was present in serum, urine, saliva and jejunal juice. A jejunal mucosal biopsy specimen showed distinctive appearances associated with alpha-chain disease. Bone marrow involvement was found and abnormal lymphoid cells were seen in the circulation together with an increased B lymphocyte population derived from bone marrow. This is the third South African patient with alpha-chain disease to be diagnosed. The patient has shown a partial remission after 12 months' chemotherapy. There was rapid symptomatic response and normalisation of protein parameters which were not paralleled by an objectively discernible response as assessed by haematological examination, intestinal absorption studies and histology of the jejunal mucosa.
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PMID:Alpha-chain disease in a non-Mediterranean climate. A case report. 81 7

A case of alpha-chain disease (alpha-CD) is described presenting as a malabsorption syndrome complicated by severe kalipenic nephropathy. Antibiotics and cyclophosphamide were effective in controlling the malabsorption and thr renal dysfunction but did not affect the basic pathological lesion. Eventually the disease became generalized, affected lymph nodes, liver and bone marrow and caused multiple intestinal perforations. Detailed histological studies failed to demonstrate the development of reticulum-cell sarcoma as a terminal complication of the disease and are suggestive of a single malignant plasmacytic cell process.
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PMID:alpha-Chain disease causing kaliopenic nephropathy and fatal intestinal perforations. 82 42

A case of alpha-chain disease is presented. Diagnosis was clinched by the discovery of typical heavy alpha-chains on analysis of serum proteins. The clinical picture included non-gluten-dependent semi-coeliac malabsorption, Hippocratic fingers, flattened villi, plasma cell infiltration of the jejunal mucosa, alpha- and beta-globulin dysprotidaemia, and abdominal masses; these signs are indicative of, but not conclusive evidence of alpha-chain disease. The presence of Coccidioides organules in the mucosa and glandular tuberculosis rises aetiopathogenetic questions that suggest that due attention be given to microbiological examination. Rapid progression to neoplasia following immunodepressive management underscores the risks associated with the administration of immunodepressors in patients with immunitary deficiencies. It is still not clear whether alpha-chain disease should be regarded as a self-perpetuating immunoproliferative disease, or as a form neoplasia ab initio, with a protracted, though of inevitably fatal, course.
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PMID:[Clinico-pathological study of a case of alpha chain disease]. 82 71

The clinical and pathological features of 17 "Western" type primary abdominal lymphomas (WTL) are compared with 14 of "Mediterranean" type (MTL). The MTL involved only young adult Mulatto and African patients in whom malabsorption and abdominal pain were the major clinical features. The WTL also predominantly affected Mulatto patients but four cases occurred in Caucasians, and the mean age at presentation was two decades later. An obstructive presentation was the most common; only one patient in this group had evidence of malabsorption. The WTLs were located mainly in the distal small bowel and were nearly all of monomorphic lymphocytic or histiocytic type. The MTLs were sited mainly in the duodenum and jejunum and were of an unusual pleomorphic histologic type. A spectrum of cells from those resembling atypical lymphocytes to large histiocytic types were seen, some of the latter resembling Reed-Sternberg cells. The pattern of mesenteric node infiltration in the MTLs was also unusual in that preservation of the medullary sinuses was a common finding. A notable feature of the MTLs was the presence of a heavy infiltration of mature-looking plasma cells associated with a fairly severe villous atrophy in the lamina propria of the small bowel. In the WTLs the adjacent small bowel did not show this feature. In addition to the above cases three patients with a similar heavy plasma cell infiltrate and villous atrophy but without evidence of a lymphoma are described. These cases may represent examples of MTL in a pre-malignant phase. Also included in this study are three patients with alpha-chain disease (alpha-CD), all with a heavy plasma cell infiltration and villous atrophy of the lamina propria and a pleomorphic type lymphoma involving the mesenteric nodes in all, and the small bowel in two. The lymphomas in alpha-CD have been interpreted as immunoblastic sarcoma by Lukes and Collins. Both genetic and environmental factors may be operative in the MTLs including the cases of alpha-CD.
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PMID:Primary intestinal lymphoma of "Western" and "Mediterranean" type, alpha chain disease and massive plasma cell infiltration: a comparative study of 37 cases. 82 14

Twenty-seven intestinal lymphoma patients were studied. Abnormal alpha-chain immunoglobulin was detected in the sera of seven of these patients. The alpha-chain disease patients were from the rural areas of Southern Iran. They were of low socio-economic status and their age ranged from 15-44 years. Predominant clinical features were malabsorption, diarrhoea , abdominal pain, vomiting, and weight loss. Infiltration of mucosa of the small intestine with plasma cells and also distortion and flattening of the villi were common histopathologic characteristics of these patients. Involvement of mesenteric lymph nodes with infiltration of tumour cells was observed in a number of cases. Protein studies revealed no significant differences between the serum immunoglobulin levels of these patients and normal values. Immunoelectrophoresis using monospecific antiserum against H-chain of human IgA demonstrated the abnormal precipitin band of alpha-chain disease protein.
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PMID:Alpha-chain disease and its association with intestinal lymphoma. 82 61

Literature and original data are reported on a case of alpha-chain disease associated with small intestine lymphoma in a male patient aged 20. The disease manifested clinically with chronic diarrhea, malabsorption, hypoproteinemia, hypocalcemia, cachexia, discretely detected alpha-chain monomer. Morphologically, there was lymphoplasmacyte infiltration of the intestinal mucosal layer; capsule collagenization, clustering immunoblasts among microlymphocytes, a pronounced macrophagal reaction, intercellular crystalloid and lymph masses, follicular pattern disappearance, sites of cellular polymorphism revealed in an axillary lymph node. The latter finding evidenced for developing immunoblastic sarcoma.
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PMID:[Morphologic changes of the small intestine and lymph nodes in alpha-chain disease]. 314 43

In two white adults born, raised, and living in central France and presenting with long-lasting malabsorption, massive and diffuse lymphoid infiltrate of the lamina propria associated with crypt scarcity was found along the whole small bowel. It was mostly composed of mature lymphocytes, focally mixed with plasma cells and reactive germinal centers. There was no evidence of celiac disease, systemic or intestinal immune deficiency or alpha-chain disease, overt lymphoid malignancy, or stagnant-loop syndrome. By immunofluorescence the infiltrate was constituted in 1 case of polyclonal B cells and, in the other, of a large majority of T11, T8, T10, and class II-positive T cells associated with a population of monotypic B cells. A gluten-free diet and parenteral nutrition proved ineffective. A dramatic and protracted clinical response was observed in both patients after the onset of oral tetracycline therapy, and still persists after 8 and 5.5 yr, respectively, together with morphologically unchanged small bowel infiltrate. These cases may be the equivalents, in people from Western developed countries, of the predominantly lymphocytic variety of the immunoproliferative small intestinal disease described in people from developing countries.
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PMID:Diffuse small intestinal lymphoid infiltration in nonimmunodeficient adults from Western Europe. 274 69


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