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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
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Background: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic “kinky” hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. In this study, we studied the clinical features and outcomes of MD, focusing on urological complications. Methods: A total of 14 unrelated Korean pediatric patients (13 boys and 1 girl) with MD were recruited, and their phenotypes and genotypes were analyzed by retrospective review of their medical records. Results: All the patients had early-onset neurological deficit, including developmental delay, seizures, and hypotonia. The girl patient showed normal serum copper and ceruloplasmin levels as well as milder symptoms. Mutational analysis of the ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1%) in the 14 patients or 8 (72.7%) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. Conclusion: Urologic problems occurred frequently in MD, with bladder diverticula being the most common. Therefore, urological imaging studies and appropriate management of urological complications, which may prevent or reduce the development of urinary tract infections and renal parenchymal damage, are required in all patients with MD
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참고문헌 (30)
참고문헌 신청
Menkes JH / 1962 / A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration / Pediatrics 29(5):764~779
Danks DM / 1972 / Menkes' kinky-hair syndrome / Lancet 1(7760):1100~1102
Tümer Z / 2010 / Menkes disease / Eur J Hum Genet 18(5):511~518
Vulpe C / 1993 / Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase / Nat Genet 3(1):7~13
Chelly J / 1993 / Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein / Nat Genet 3(1):14~19
Danks DM / 1972 / Menkes' kinky-hair syndrome / Lancet 1(7760):1100~1102
Tümer Z / 2010 / Menkes disease / Eur J Hum Genet 18(5):511~518
Vulpe C / 1993 / Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase / Nat Genet 3(1):7~13
Chelly J / 1993 / Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein / Nat Genet 3(1):14~19
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