Objective: To describe the phenotype, referral pattern, and trends of urologic management for children with megacystis microcolon intestinal hypoperistalsis syndrome.
Materials And Methods: We performed a retrospective review of all patients with megacystis microcolon intestinal hypoperistalsis syndrome treated at a large tertiary children's medical center over a 14-year period. Our primary outcomes included the rate of urology referral, urodynamic characteristics of bladder function, and the proportion of patients managed with clean intermittent catheterization.
Results: Twenty-six patients were evaluated at our institution with a median age at presentation of 1.3 years (73% female, 19 of 26). Most patients presented for intestinal transplantation evaluation and were dependent on parenteral nutrition. Megacystis was diagnosed prenatally in 15 patients and postnatally in 11 patients. Twenty patients (77%, 20 of 26) were evaluated by a pediatric urologist. Six patients (23%, 6 of 26) had varying degrees of vesicoureteral reflux. Early bladder management consisted of clean intermittent catheterization in 13 patients and vesicostomy in 8 patients.
Conclusion: Megacystis microcolon intestinal hypoperistalsis syndrome is a severe form of intestinal failure and bladder atony with substantial urologic morbidity. Parents should be counseled accordingly and prompt urologic consultation should be included in the multidisciplinary approach to these complex patients.
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http://dx.doi.org/10.1016/j.urology.2018.05.002 | DOI Listing |
Gastroenterol Nurs
November 2024
About the authors: Shengnan Luo, is from Jinglang Senior Expert Department, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
PLoS One
October 2024
Personalised Medicine Centre, School of Medicine, Ulster University, C-TRIC Building, Altnagelvin Hospital, Derry, Londonderry, Northern Ireland.
J Med Ultrasound
September 2023
Center of Prenatal Diagnosis, Centro Hospitalar Vila Nova De Gaia, Espinho, Vila Nova De Gaia, Portugal.
Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disease with a poor prognosis and life expectancy. We present the prenatal diagnosis of four consecutive cases in the same woman. After medical genetics consultation, the couple was advised to resort to medically assisted reproduction techniques with oocyte donation.
View Article and Find Full Text PDFbioRxiv
August 2024
Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.
Smooth muscle cell-specific myosin heavy chain, encoded by , is selectively expressed in smooth muscle cells (s). Pathogenic variants in predispose to a number of disorders, including heritable thoracic aortic disease associated with patent ductus arteriosus, visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Rare variants of uncertain significance occur throughout the gene, including p.
View Article and Find Full Text PDFPediatr Surg Int
August 2024
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is defined as a congenital visceral myopathy with genetic mutations. However, the etiology and pathophysiology are not fully understood. We aimed to generate a gene leiomodin-1a (lmod1a) modification technique to establish a zebrafish model of MMIHS.
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