Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although patients with hemolytic hemoglobinopathies characteristically are over-producers of urate, and hyperuricemia is frequently recognized, clinical gout has rarely been reported in such patients. Our evaluation of 2 premenopausal women with gout led to the diagnosis of previously unrecognized hemoglobinopathies (SC disease and CC disease). Investigation of these 2 patients and review of the reported cases of gout in patients with hemoglobin S or C disorders suggest that relatively minor abnormalities of renal function in these patients may lead to early development of significant hyperuricemia. With increasing lifespan of patients with hemolytic hemoglobinopathies and the likelihood of increased occurrence of renal function abnormalities, it is anticipated that gout will more frequently be responsible for joint symptoms in such patients.
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PMID:Secondary gout in hemoglobinopathies: report of two cases and review of the literature. 60 29

Eleven patients with sickle hemoglobinopathies undergoing sonographic examinations for reasons unrelated to renal parenchymal disease were incidentally noted to have increased echogenicity in the central portion of the renal parenchyma. This appearance was observed to be a continuum, with some cases showing focally hyperechoic medullary pyramids at one extreme and other cases showing a diffusely echogenic central parenchymal region relative to a thin band of hypoechoic cortical or peripheral parenchyma at the other extreme. The finding of hyperechoic medullae of the kidneys has been reported in patients having conditions associated with hyperuricemia, medullary nephrocalcinosis, or hypokalemia. This sign has not been commonly reported as a finding in patients with sickle syndrome. The thin hypoechoic rim of cortical parenchyma relative to a more echogenic central parenchyma has not been commented on previously.
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PMID:Focal and diffuse increased echogenicity in the renal parenchyma in patients with sickle hemoglobinopathies--an observation. 849 27