Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
J Korean Med Sci. 2018 Dec 26;34(1):e4. doi: 10.3346/jkms.2019.34.e4. eCollection 2019 Jan 7.
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.
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.
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 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.
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.
Menkes 病（MD）是一种罕见的 X 连锁遗传性多系统疾病，由铜代谢功能障碍引起。MD 患者通常表现为进行性神经退行性变、一些结缔组织异常和特征性“卷曲”毛发。此外，由于潜在的结缔组织异常，MD 患者常发生各种类型的泌尿科并发症。在这项研究中，我们研究了 MD 的临床特征和结果，重点关注泌尿科并发症。
共纳入 14 名无关的韩国儿科 MD 患者（13 名男孩和 1 名女孩），通过回顾病历分析其表型和基因型。
所有患者均有早期神经功能缺损，包括发育迟缓、癫痫发作和张力减退。女孩患者的血清铜和铜蓝蛋白水平正常，症状较轻。基因分析显示 12 名患者中有 11 名存在 11 种不同的突变。膀胱憩室是最常见的泌尿科并发症：14 名患者中有 8 名（57.1%），11 名接受泌尿科评估的患者中有 8 名（72.7%）。泌尿科影像学研究主要用于评估伴随的尿路感染。最后一次随访时，有 4 名患者患有 II 期慢性肾脏病。
MD 患者经常出现泌尿科问题，以膀胱憩室最为常见。因此，所有 MD 患者均需要进行泌尿科影像学检查和适当的泌尿科并发症管理，这可能预防或减少尿路感染和肾实质损伤的发生和发展。
