Hui Wun Fung, Hon Kam Lun, Leung Alexander K C, Pang Kristine Kit Yi, Leung Michael Wai Yip
Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Kowloon, Hong Kong.
Department of Paediatrics, The University of Calgary and Pediatric Consultant at The Alberta Children's Hospital, T2M 0H5, Calgary, Alberta, Canada.
Case Rep Pediatr. 2021 Aug 17;2021:4398456. doi: 10.1155/2021/4398456. eCollection 2021.
Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4-year-old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea-splitting organisms. The child developed urosepsis and right pyelonephritis. Subsequent investigations revealed multiple right renal stones and a ruptured right ureter. The child also developed hypokalemia, hypophosphatemia, and normal anion gap metabolic acidosis that required electrolyte and potassium citrate supplement. Further assessment revealed renal tubular dysfunction. Our case suggests that regular imaging surveillance, monitoring of renal function and electrolyte profile, and tubular function assessment should be considered in children with Menkes disease.
患有门克斯病的儿童可能会出现各种泌尿系统和肾脏问题，这些问题会随着疾病的进展而演变。一名患有门克斯病的4岁男孩有多个膀胱憩室，并有由尿素分解菌引起的复发性尿路感染病史。该患儿发展为尿脓毒症和右肾盂肾炎。随后的检查发现右肾有多个结石以及右输尿管破裂。该患儿还出现了低钾血症、低磷血症和正常阴离子间隙代谢性酸中毒，需要补充电解质和枸橼酸钾。进一步评估显示存在肾小管功能障碍。我们的病例表明，对于患有门克斯病的儿童，应考虑进行定期影像学监测、肾功能和电解质状况监测以及肾小管功能评估。
