Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Pediatric Surgery, University of Genoa, DINOGMI, Largo Paolo Daneo, 3, 16132, Genoa, Italy.
Pediatr Surg Int. 2024 May 7;40(1):124. doi: 10.1007/s00383-024-05711-2.
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS.
Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years.
Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up.
We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.
巨膀胱-小结肠-肠蠕动不良综合征（MMIHS）是一种已被充分描述的临床病症，但报道主要集中在小结肠和肠道蠕动不良，而膀胱管理的数据则很少。本研究旨在介绍 MMIHS 的泌尿科相关问题。
回顾性评估过去 10 年中接受治疗的 MMIHS 患者的泌尿科管理的临床数据。
共纳入 6 名患者（3 名男性，3 名女性）。3 名女孩在产前诊断为巨膀胱（1 例行膀胱-羊膜分流术）。所有患者均有基因诊断：5 例 ACTG2 基因突变，1 例 MYH11 突变。所有患者均因出现泌尿系统症状（如尿潴留、尿路感染、急性肾损伤）而就诊。2 名患者频繁出现造口脱垂。所有儿童均接受了全面的泌尿科评估，然后开始进行膀胱管理方案（经尿道或膀胱造瘘管间歇性清洁导尿），从而改善了尿路感染、上尿路扩张和造口脱垂（如有）。所有患者在最后一次随访时肾功能良好。
我们认为 MMIHS 患者必须在出现症状之前尽快接受多学科评估，包括由擅长功能障碍的小儿泌尿科专家进行早期评估，以尽可能保持最佳的肾功能。
