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)

Two sisters who presented with diffuse hypoplasia of pulmonary arteries, relative hypoplasia of ascending aorta, obstructive uropathy, bilateral ureteral reflux, and hydronephrosis, are described. The subsequent course was characterized by progressive and gradual onset of right heart failure, failure to thrive, chronic malabsorption and systemic hypertension. The syndrome which appears to be transmitted by autosomal recessive inheritance can possibly represent a generalized hypoplasia and growth failure of a part or the entire arterial system. Peripheral pulmonary stenosis can occur as an isolated lesion or in association with other congenital cardiac anomalies, as well as in rubella syndrome and the syndrome of supravalvular aortic stenosis. This communication reports two siblings with a hitherto unreported combination of hypoplastic pulmonary arteries, and aorta with identical genito-urinary tract abnormalities.
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PMID:Hypoplastic pulmonary arteries and aorta with obstructive uropathy in 2 siblings. 671 10

A patient with systemic lupus erythematosus (SLE) is described who displayed the unusual extraglomerular syndromes of interstitial cystitis with obstructive uropathy and severe secretory-type diarrhea with intestinal malabsorption. Pathologic investigations into the nature of these events revealed immunofluorescent deposits in blood vessel walls of the small intestine and urinary bladder. The patient's malabsorption state and cystitis with urinary obstruction regressed with therapy of the SLE. We are postulating that immune complexes from the circulation may deposit in blood vessel walls, and may be responsible for tissue injury in these sites and the clinical manifestations of this patient.
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PMID:Studies of the pathogenesis of interstitial cystitis, obstructive uropathy, and intestinal malabsorption in a patient with systemic lupus erythematosus. 721 22