Urologic abnormalities in Menkes' kinky hair disease: report of three cases
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Published on: February 3, 2012
Insights
Menkes kinky hair disease, a rare genetic disorder, often presents with urinary tract issues. This study details three distinct urologic abnormalities in affected infants, highlighting the varied presentations of this condition.
Area of Science:
- Genetics
- Pediatrics
- Urology
Background:
- Menkes kinky hair disease is a rare X-linked recessive disorder of copper metabolism.
- Urologic abnormalities are frequently observed in patients with Menkes disease.
Observation:
- Three pediatric cases of Menkes disease with distinct urologic findings were analyzed.
- Case 1: Multiple bladder diverticula, right vesicoureteral reflux, and right hydronephrosis.
- Case 2: Neonatal renal and pelvic hematomas, suspected vascular abnormalities. Case 3: Multiple bladder diverticula, with one rupturing spontaneously.
Findings:
- The study illustrates the diverse spectrum of urologic complications associated with Menkes kinky hair disease.
- Each case presented unique urinary tract anomalies, emphasizing the condition's variable clinical manifestations.
Implications:
- Early recognition and management of urologic issues are crucial for patients with Menkes disease.
- Understanding these varied presentations can aid in timely diagnosis and improved patient outcomes.
Abstract:
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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