Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.

Autor: Pellegrino C; Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. chiara.pellegrino@opbg.net., Barone G; 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., Capitanucci ML; Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Zaccara AM; Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Fusaro F; Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Iacobelli BD; Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Scorletti F; Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Conforti A; Neonatal Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., De Angelis P; Gastroenterology and Nutrition Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Diamanti A; Nutrition Rehabilitation Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Caldaro T; Digestive Endoscopy and Surgery Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Tambucci R; Gastroenterology and Nutrition Unit, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy., Sollini ML; Clinical Sciences and Transitional Medicine, Tissue Engineering and Remodelling Biotechnologies for Body Function, University of Rome Tor Vergata, Via Cracovia, 50, 00133, Rome, Italy., Forlini V; 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., Mosiello G; Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Jazyk: angličtina
Zdroj: Pediatric surgery international [Pediatr Surg Int] 2024 May 07; Vol. 40 (1), pp. 124. Date of Electronic Publication: 2024 May 07.
DOI: 10.1007/s00383-024-05711-2
Abstrakt: Purpose: 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.
Conclusion: 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.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
Externí odkaz: