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)

Whipple's disease is a rare, systemic disorder characterized by arthritis, serositis, diarrhea, malabsorption, lymphadenopathies, weight loss, fever, cutaneous hyperpigmentation and central and peripheral nervous system disorders. There are approximately 60 published cases with pulmonary involvement, in general pleuritis, hilar adenopathies and interstitial affectation. In some occasions, sarcoidosis has been diagnosed prior to WD, postulating either a causal association between both entities, or a relationship between them, existing in WD and initial phase which mimics sarcoidosis. We present a patient diagnosed of sarcoidosis who during the evolution of the disease developed gastrointestinal symptoms compatible with WD.
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PMID:[Sarcoidosis and Whipple's disease: an association or a relationship?]. 137 84

A 30 year old woman with recurrent anaemia due to folate deficiency had evidence of sarcoid granuloma on small bowel biopsy but was presumed to have Crohn's disease. The diagnosis of small bowel sarcoidosis was not seriously considered until she developed systemic manifestations of sarcoidosis (cutaneous and pulmonary lesions) over the following 20 years. Sarcoidosis of the gastrointestinal tract, particularly the small bowel, is rare and this case is unusual because bowel pathology preceded more generalised lesions. As far as is known it is also the first case to be described presenting with malabsorption of folic acid.
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PMID:Sarcoidosis: association with small bowel disease and folate deficiency. 140 Dec 18

A patient with disseminated gastrointestinal sarcoidosis and non-Hodgkin's malignant lymphoma developed diarrhea and polyadenopathy. Laboratory analysis revealed the presence of protein-losing enteropathy without biological signs of malabsorption. Gastrointestinal biopsy specimens showed numerous sarcoidosis nodules without neoplastic proliferation in the stomach, small intestine, and rectum. The patient's course was favorable after treatment with prednisone and chlorambucil. Disseminated gastrointestinal sarcoidosis may be a previously unidentified cause of protein-losing enteropathy.
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PMID:Protein-losing enteropathy in gastrointestinal sarcoidosis associated with malignant lymphoma. 155 13

Adult coeliac disease has a broad clinical spectrum and remains undetected for years. Among subclinical deficiency states, attributable to coeliac enteropathy, combined iron and folic acid malabsorption is predominant. An unexplained recurrent iron anaemia is an indication for small intestinal biopsy. Gastro-intestinal disorders are present in only 50% of the cases. Coeliac disease is frequently associated with other major histocompatibility complex (MMC)-linked diseases which are mediated by immunological mechanisms: dermatitis herpetiformis, oral ulcerations, IgA nephropathy, rheumatoid arthritis, sarcoidosis. Dermatitis herpetiformis is a useful model for examination of the spectrum of mucosal changes that typify gluten sensitivity and subliminal lesions without villous atrophy. An increased interest is devoted to the intra-epithelial T-lymphocyte population, not only in the small intestine, but at the level of the stomach and the colon. A "rectal challenge" test has been proposed for detecting gluten sensitivity in coeliac patients. Such a test could be an original method of screening, reducing so the need of small intestinal biopsy. The preliminary results are to be confirmed. Until now, jejunoscopy remains mandatory for the diagnosis and the survey of intestinal lesions related to coeliac disease.
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PMID:[Celiac disease in adults: clinical aspects--role of endoscopy]. 163 35

We report results for adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood from 183 patients with disorders of calcium metabolism (primary hyperparathyroidism, secondary hyperparathyroidism of malabsorption, primary hypoparathyroidism, Paget's disease, acromegaly, hypercalcemia of malignancy, osteoporosis, sarcoidosis, idiopathic hypercalciuria, and familial hypocalciuric hypercalcemia). The correlation and the equation for the linear regression between adjusted ionized calcium (y) and actual ionized calcium (x) were y = 1.011x + 0.005 mmol/L, r = 0.992, Sy,x = 0.021 mmol/L. Results were similar within each diagnostic group. Consistent agreement between adjusted and ionized calcium was observed in 96.7% of patients representing a variety of the most frequently encountered disorders of calcium metabolism. Thus we find adjusted ionized calcium to be as useful as actual ionized calcium for evaluation of patients with such disorders. Adjusted ionized calcium may therefore also be a logical choice for establishing agreement between laboratories for reference intervals in healthy adults.
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PMID:Adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood compared for clinical evaluation of patients with disorders of calcium metabolism. 231 Dec 30

A study of 60 patients with oro-facial granulomatosis has been conducted and the clinical presentation of this disorder defined. It encompasses the previously recognised clinical entities of Melkersson-Rosenthal syndrome and cheilitis granulomatosa. The pathological features of the disease are lymphoedema and the presence of multiple non-caseating giant cell granulomata. These granulomata are histologically indistinguishable from those found in both gastrointestinal Crohn's disease and systemic sarcoidosis. Within this series of patients, nine had evidence suggestive of gastrointestinal Crohn's disease, and in six this was confirmed. A diagnosis of sarcoidosis was made in a further two patients. The relationship of oro-facial granulomatosis to these systemic granulomatous diseases is not yet clear. Patients with oro-facial granulomatosis who have gastrointestinal symptoms should be investigated for the presence of gastrointestinal Crohn's disease. Those without symptoms should be investigated for evidence of malabsorption or serological evidence of Crohn's disease. Within the present study, the erythrocyte sedimentation rate, full blood count, corrected whole blood folate, serum albumin and calcium were the most sensitive markers of gastrointestinal involvement. Sarcoidosis should be considered in all patients with oro-facial granulomatosis. The absence of clinical signs suggestive of sarcoidosis, a normal chest radiograph and normal levels of serum angiotensin-converting enzyme makes sarcoidosis unlikely.
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PMID:Oro-facial granulomatosis--a clinical and pathological analysis. 397 43

Elucidation of the vitamin D endocrine system and the availability of potent metabolites have led to new approaches to vitamin D therapy. The traditional management of exogenous (sunlight) or endogenous (malabsorption) vitamin D deficiency without evidence of disordered vitamin D metabolism has not changed, since it consists of treatment with vitamin D itself--a therapy which preserves the normal intrinsic mechanisms for regulating the rate of production of 1,25-dihydroxycholecalciferol. 1,25-DHCC and the analogue compound 1 alpha-CC should be reserved for treatment of hypocalcemia consequent on chronic renal failure or hypoparathyroidism, where 1-hydroxylation is lacking or impaired. Hypophosphatemic rickets has been treated with 1-hydroxylated compounds, with promising results; this use of the latter metabolites warrants further investigation. The use of vitamin D metabolites and of pharmacological doses of vitamin D itself must be regarded as substitution of a hormone or hormone precursors. Therefore, careful monitoring of serum and urine calcium is required in every patient receiving these compounds, in order to avoid excessive dosage. Special attention must be paid to patients with sarcoidosis since they often develop hypercalcemia after vitamin D or UV-light exposure, as a result of an intrinsic regulation defect in 1,25-DHCC synthesis.
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PMID:[Therapy with vitamin D and D-metabolites]. 626 26

A patient with long-standing sarcoidosis was found to have jejunal atrophy and nonnecrotizing granulomas of the stomach, small bowel, and colon when she presented with malabsorption. There were no radiologic abnormalities of the gastrointestinal tract. Symptoms of malabsorption rapidly abated with corticosteroid treatment given for severe pulmonary disease. Gastrointestinal sarcoidosis was clearly established, although coincident celiac sprue could not be excluded. A brief discussion and literature review of gastrointestinal sarcoidosis is included.
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PMID:Disseminated gastrointestinal sarcoidosis. Case report and review of the literature. 673 84

The state of vitamin D nutrition depends on synthesis in the skin under the influence of sunlight as well as on dietary intake. In European countries that do not fortify milk with vitamin D, reduced sun exposure is the major factor leading to a fall in body stores of vitamin D with age and to a high frequency of hypovitaminosis D in the elderly sick. In the US, because vitamin D is added to milk and the use of vitamin D supplements is more common, the dietary intake of vitamin D is relatively more important than in Europe, and the total vitamin D intake and body stores of vitamin D are generally higher. Nevertheless, body stores of vitamin D probably fall with age in the US as they do in Europe, and it is likely that some sick elderly persons in the US, especially among those confined to institutions, become vitamin D deficient. For several reasons, the vitamin D requirement increases with age, and a total supply of 15 to 20 micrograms/day (600 to 800 IU) from all sources is recommended. Special attention should be paid to persons most likely to need supplementation, such as the housebound, persons with malabsorption, and persons with interruption of the enterohepatic circulation. Osteomalacia, the bone disease produced by severe vitamin D deficiency, is less common in the US than in Europe, but subclinical vitamin D deficiency may contribute to the pathogenesis of hip fractures, both through increased liability to fall and through PTH-mediated bone loss. The extent to which vitamin D deficiency contributes to hip fractures in the US is unknown, and is an important area for future research. Excess intake of vitamin D or of its metabolites may result in hypercalcemia and extra-osseous calcification, particularly in arterial walls and in the kidney, leading to chronic renal failure. The dose of vitamin D that causes significant hypercalcemia is highly variable between individuals but is rarely less than 1000 micrograms/day. Smaller doses can cause hypercalciuria and nephrolithiasis and possibly impaired renal function. Vitamin D administration may raise plasma cholesterol but there is no convincing evidence that the risk of myocardial infarction is increased. The recommended total supply for the elderly of 20 micrograms/day is most unlikely to be harmful, except in patients with sarcoidosis or renal calculi.
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PMID:Vitamin D and bone health in the elderly. 676 68

In 43 children who had been admitted to our department due to symptoms of malabsorption, sonography of the small bowel was performed before biopsy. Seventeen of the patients were shown to have celiac disease. Twenty-six patients had gastroenteritis, postenteritis syndrome, and enteropathic cow's milk allergy, and one patient had sarcoidosis. At the time of diagnosis, 16 children with celiac disease showed a sonographically abnormal appearance of the small-bowel wall structure. In addition to hyperperistalsis, slight ascites, pericardial fluid, or liver tissue texture changes could be found in some of the patients. Relating the findings of abnormal small-bowel wall structures to the data of the small-bowel biopsy, we found a sensitivity of 94% and a specificity of 88% for sonographic detection of changes related to celiac disease. Our findings indicate that sonographic data can be of great help in exploring children with signs of malabsorption. These data provide a further argument for the decision to perform a biopsy of the small bowel.
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PMID:Sonographic findings in celiac disease. 822 48


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