Abstract：
OBJECTIVE: 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.
METHODS: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：巨结肠-肠蠕动综合征（MMIHS）是一种描述良好的临床疾病，但是报道集中在微结肠和肠蠕动上，而膀胱管理的数据很少。这项研究的目的是提出MMIHS的泌尿外科问题。
方法：对过去10年中接受治疗的MMIHS患者泌尿外科管理的临床数据进行回顾性评估。
结果：纳入6例患者（3例男性，3女）。三个女孩的产前诊断为巨细胞病（放置了1个膀胱羊膜分流术）。所有患者均有基因诊断：5例具有ACTG2基因突变，1例MYH11突变。所有患者的泌尿症状都引起了我们的注意，如尿潴留，尿路感染,急性肾损伤。两名患者频繁出现气孔脱垂。所有孩子都接受了完整的泌尿外科评估，然后开始膀胱管理方案(清洁间歇性导尿,通过尿道或膀胱造瘘管放置)，随着尿路感染的改善，上尿路扩张和造口脱垂，如果存在。所有患者末次随访时肾功能良好。
结论：我们认为MMIHS患者必须在症状出现之前尽快进行多学科评估，包括儿科泌尿科专家对功能障碍的早期评估，保持肾功能的最佳状态.
方法：对过去10年中接受治疗的MMIHS患者泌尿外科管理的临床数据进行回顾性评估。
结果：纳入6例患者（3例男性，3女）。三个女孩的产前诊断为巨细胞病（放置了1个膀胱羊膜分流术）。所有患者均有基因诊断：5例具有ACTG2基因突变，1例MYH11突变。所有患者的泌尿症状都引起了我们的注意，如尿潴留，尿路感染,急性肾损伤。两名患者频繁出现气孔脱垂。所有孩子都接受了完整的泌尿外科评估，然后开始膀胱管理方案(清洁间歇性导尿,通过尿道或膀胱造瘘管放置)，随着尿路感染的改善，上尿路扩张和造口脱垂，如果存在。所有患者末次随访时肾功能良好。
结论：我们认为MMIHS患者必须在症状出现之前尽快进行多学科评估，包括儿科泌尿科专家对功能障碍的早期评估，保持肾功能的最佳状态.
