Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3 year old girl with Down's syndrome became lethargic and withdrawn, and investigations showed a specific malabsorption of vitamin B12 without proteinuria.
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PMID:Specific malabsorption of vitamin B12 in Down's syndrome. 294 Sep 80

The aim of this report is to call attention to a poorly recognised cause of pulmonary hypertension, thiamine deficiency. A 78-year-old woman without alcoholism or malabsorption presented with progressive dyspnoea and generalised oedema. Echocardiography showed signs of right ventricular overload with an estimated systolic pulmonary artery pressure of 50 mm Hg. Increased lactate concentrations prompted us to investigate thiamine deficiency. A 3-month history of picky eating, relying exclusively on white rice as the staple food, and low blood concentrations of thiamine confirmed the diagnosis. She recovered fully after 12 days of intravenous thiamine administration. Thiamine deficiency should be considered in all patients with pulmonary hypertension of unknown origin.
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PMID:Thiamine-responsive pulmonary hypertension. 2330 52

Collagenous sprue (CS) is a severe malabsorption disorder, the etiology of which has not been well defined. Herein, we report the case of a 3-month-old infant with CS who responded to steroid and immunomodulator treatment and presented a thick subepithelial collagen band. A 3-month-old Japanese girl presented with severe watery diarrhea that lasted for 2 weeks. She was admitted to the referring hospital, but symptomatic improvement was not achieved with fasting and rehydration. Gastroduodenal endoscopy showed an edematous duodenal mucosal surface. Duodenal biopsy indicated severe villous atrophy with infiltration of mostly CD8-positive T cells; and deposition of subepithelial collagen was confirmed. The subepithelial collagen deposits, however, had disappeared after treatment. Historically, child-onset CS is extremely rare and this case is likely to be the youngest case of infantile CS. The present case suggests that CS should be considered as a differential diagnosis for intractable diarrhea, even in infants.
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PMID:Collagenous sprue in a 3-month-old infant. 2571 Dec 70