Pelvic fracture urethral injury in adolescents - Predictors of outcomes and surgical complexity.

INTRODUCTION: Pelvic fracture urethral injury (PFUI) is more severe in younger individuals. The adolescent group is prone to protracted morbidity due to severity of the injury and its impact on lifestyle. Hence, treatment options and data on outcomes are crucial in planning management. The adolescents are a subgroup in several series of PFUI, but literature exclusively studying this group is sparse. MATERIALS & METHODS: A retrospective review of all adolescents (aged between 10 and 19 years as defined by WHO) who underwent surgical repair for PFUI between January 2005 and December 2019 was conducted. Success was defined as a bell-shaped urine flow curve and Qmax of >15 ml/s, no evidence of re-stricture (on cystoscopy/MCU), and no re-intervention. Measurements of the length of the urethral defect and bulbar urethra were done using a digital scale by the radiologist from micturating cystourethrogram (MCU). The Gapometry/Urethrometry (GU) index was calculated as the ratio of the length of the urethral defect to that of the bulbar urethra. Data was analysed using SPSS software version 20.0 and Stata Version 16. The primary outcome was the success of anastomotic urethroplasty. Secondary outcomes were evaluating factors predicting operative complexity (simple perineal versus elaborate perineal approach). RESULTS: We studied 22 patients, out of which 8 were referred following prior failed intervention elsewhere. The mean age was 16.5 + 2.7 years. All the patients were treated using a perineal approach with an overall success rate of 90.9%. Two patients had a failure and were managed with Endoscopic Internal Urethrotomy (EIU), and urethral dilatation. The median follow-up was 24 months. All 8 patients with prior failed interventions had a successful outcome. Twelve patients required inferior pubectomy (elaborate perineal approach). The median length of the urethral defect (2.3 cm IQR- 1.45,3.30 vs. 1 cm, IQR-0.65, 1.6) and the mean GU index (0.45 ± 0.18 cm vs. 0.25 cm ± 0.12 cm) were significantly higher in those who required an elaborate perineal approach. CONCLUSIONS: The perineal approach for surgical repair (anastomotic urethroplasty) of pelvic fracture urethral injury has a favourable success rate of 90.9% in adolescents. Re-do anastomotic urethroplasty for prior failed repairs also had a high success rate of 100%. Cases requiring an elaborate perineal approach were associated with a significantly higher Gapometry/Urethrometry Index (>0.45) and length of the urethral defect (>2.3 cm). This information may assist in patient counselling and preparation for additional steps during repair.

Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.