Renal anomalies and microtia: Determining the clinical utility of screening affected children.

OBJECTIVES: Microtia is a congenital ear anomaly that hinders quality of life. Microtia patients, both syndromic and in isolation, may be at-risk for significant renal anomalies that can go undetected at the time of birth. The goal of this study was to characterize the prevalence of renal anomalies among microtia patients at our institution in order to guide optimal patient management. Current guidelines suggest performing a renal ultrasound when there is presence of preauricular pits and ear anomalies in association with dysmorphic features, but not in cases of isolated microtia and atresia.

DESIGN: A retrospective review of 237 children with microtia was conducted from 2001 through 2018 at our tertiary-care pediatric institution, of which 98 also had a documented renal ultrasound. Patients were identified as syndromic or non-syndromic. Data endpoints included renal ultrasounds performed, structural anomalies found, and follow-up.

RESULTS: Among the 237 patients, 98 had received renal ultrasounds. 12% of the total cohort was found to be syndromic, the most common being Goldenhar. Structural anomalies were detected in 24% of the 98 patients that underwent ultrasound and included disorders such as pelviectasis, renal ectopia, duplicated collecting systems, and renal agenesis. A third of patients with anomalies required follow-up with nephrology for chronic kidney disease or renal failure. Of note, 21% of non-syndromic patients and 43% of syndromic patients screened had an abnormality on ultrasonography.

CONCLUSIONS: Children with microtia are at a significant risk of structural renal abnormalities, even when isolated outside of a genetic syndrome. We recommend the strong consideration of performing a screening renal ultrasound in all patients with microtia. Prospective data would be helpful in developing future clinical guidelines regarding the utility of screening ultrasonography.