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 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

A 47-year-old woman with seronegative polyarthritis, diarrhea, and photosensitivity dermatitis was found to have Crohn's disease and pellagra. The presence of high values of 5-hydroxyindolacetic acid in the urine began the exhaustive investigations and finally enterotomy. No mass lesion was found. Argyrophilic cells were not increased in areas of inflamed intestinal mucosa or the normal mucosa. The disagreement between biochemical and histologic findings was attributed to sampling error. Antiinflammatory treatment for Crohn's disease was given and the gastrointestinal and articular symptoms improved, excretion of 5-hydroxyindolacetic acid returned to normal and there was no relapse of pellagra. Pellagra as a complication of Crohn's disease has been described in 4 cases; malnutrition and intestinal malabsorption were the proposed mechanisms for the niacin deficiency and pellagra of those patients. In the current case, the pathogenesis of pellagra may be accounted to wastage of tryptophan by an increased pool of intestinal argyrophilic cells, suggested by increased urinary excretion of 5-hydroxyindolacetic acid.
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PMID:Crohn's disease associated with pellagra and increased excretion of 5-hydroxyindolacetic acid. 903 Jun 78

Dyskeratosis congenita (DC) is a rare inherited disorder often associated with aplastic anaemia. We report the cases of five boys transplanted with an HLA-identical related donor for severe aplastic anaemia (SAA) associated to DC; in all cases successful engraftment was observed. Three patients died 2-8 years after bone marrow transplantation (BMT) with signs of endothelial cell damage syndrome (kidney microangiopathy and liver veno-occlusive disease). Another boy died 1 year after BMT from Evans syndrome and invasive aspergillosis. One boy currently presents anaemia, polyarthritis of unknown origin, pulmonary fibrosis and gut malabsorption 7.5 years after BMT. SAA associated with DC can be successfully treated by allogeneic BMT. However, these early and late complications observed are very unusual after BMT and probably reflect the association of transplanted-related factors, evolution of the underlying disease, and increased sensitivity of endothelial cells. Modified conditioning approaches, advances in supportive care and surveillance of these unusual complications offer the possibility of improved outcome for these patients.
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PMID:Unusual complications after bone marrow transplantation for dyskeratosis congenita. 979 16

Whipple's disease is a multisystem bacterial disease usually characterized by malabsorption, diarrhea and polyarthritis. Ocular manifestations include uveitis, vitreitis, retinis, myositis, papilledema and optic atrophy. We report a case of a chronic bilateral vitreitis in a 63 year-old man who had been treated for a Whipple's disease with gastrointestinal involvement 30 years before. The jejunal biopsy was negative but the polymerase-chain-reaction (PCR) revealed the presence of Trophyrema Whippelii in the vitreous prelevement of both eye. This new, original strategy of PCR is specific and more sensitive than histological diagnosis.
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PMID:[Uveitis in Whipple disease: Identification of Trophyrema whippelii by PCR]. 983 25

Whipple's disease is a very rare chronic multisystemic bacterial disease characterized by diarrhea, malabsorption, fever, and polyarthritis. Ocular manifestations occur very rarely. Previous reports have suggested that the use of immunosuppressive drugs appears to accelerate or exacerbate the clinical course of Whipple's disease; however, the illness has yet to be reported in the setting of transplantation. Herein, we describe what we believe is the first reported case of Whipple's disease after transplantation. The patient is a 51-year-old woman who developed progressive visual floaters and blurring of vision 30 years after living-related kidney transplantation for an autosomal-dominant polycystic kidney disease. Her allograft was functioning well on maintenance immunosuppressive therapy with azathioprine and prednisone when she developed visual abnormalities. Transient weight loss, gastrointestinal symptoms, and migratory polyarthralgia predated the onset of ocular disease by several years. The diagnosis of Whipple's bilateral vitreitis and chorioretinitis was confirmed by polymerase chain reaction analysis demonstrating Tropheryma whipplei nucleic acid in vitreous fluid and peripheral blood sample as well as by demonstration of the bacilli by cytopathology. Intraocular vancomycin, intravenous ceftriaxone, and prolonged course of oral trimethoprim-sulfamethoxazole therapy led to clinical improvement and recovery of visual acuity.
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PMID:Chorioretinitis and vitreitis due to Tropheryma whipplei after transplantation: case report and review. 1856 81

Copper deficiency is an uncommon, but treatable cause of hematologic abnormalities. We present and describe two interesting cases in this report. The first case was a 37-year-old man with history of short bowel syndrome and long-term total parenteral nutrition (TPN) presenting with pancytopenia and chronic symmetrical polyarthritis that resembled rheumatoid arthritis. The second case was a 64-year-old man with malabsorption from Cronkhite-Canada Syndrome (CCS) and history of subtotal gastrectomy presenting with macrocytic anemia and neutropenia. Bone marrow examination in both cases revealed cytoplasmic vacuolization of myeloid and erythroid precursors. After copper supplementation was initiated, hematological abnormalities and arthritis were significantly improved. We encourage clinicians to recognize early and identify copper deficiency in patients who have unexplained cytopenia, especially if there is history of upper gastrointestinal tract surgery, malabsorption, or long-term TPN.
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PMID:Anemia and Neutropenia in Copper-Deficient Patients: A Report of Two Cases and Literature Review. 2990 25