Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three unrelated cases of Menkes's syndrome are described. In addition to the typical features these cases all showed abnormalities of the urinary tract characterized by hydronephrosis, hydroureter, and bladder diverticula. There was no organic obstruction in the urinary tract and the changes are presumed to be due to disturbed innervation. The 3 patients showed no overall clinical response to parenteral copper therapy administered for periods of 1 to 8 months. Necropsy studies showed structural changes in veins as well as arteries together with aneurysm formation in both, and one case showed a polypoid lesion in the stomach.
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PMID:Menkes's steely hair syndrome. 127 38

Menkes' kinky hair disease is a rare congenital disorder of copper metabolism with X-linked recessive inheritance. It is well known that it is frequently associated with urologic abnormalities. The authors experienced three such cases, but each of them was different. Multiple bladder diverticula, right vesico-ureteral reflux, and right hydronephrosis were noted on the first baby boy. In the second case, hematomas in the left kidney, pelvis, ureter and the adipose capsule, which were thought to be the abnormality of vessels, were noted in the neonatal period. In the third body, multiple bladder diverticular were noted at the age of 1 year. One year, 10 months later, a spontaneous rupture at the huge diverticulum occurred.
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PMID:Urologic abnormalities in Menkes' kinky hair disease: report of three cases. 916 80