Associação entre refluxo vesicoureteral e anomalia do cromossomo 22 em anel - relato de caso

Abstract

Vesicoureteral reflux (VUR) is characterized by retrograde urine flow, caused by impaired occlusion of the intramural portion of the ureter by contraction of the detrusor muscle during urination or secondary to altered bladder dynamics, ureteral obstruction and neuromuscular diseases, such as Phelans syndrome -McDermid. This syndrome is a rare and underreported disease, resulting from the formation of chromosome 22 in a ring and has VUR as its main urological manifestation. The objective of this study is to alert the medical community about one of the differential diagnoses in the VUR etiology, based on the case of a female patient, 4 years and 2 months old, referred to the Pediatric Surgery service of the Mário Covas State Hospital with recurrent infection of urinary tract associated with impaired renal function and bilateral VUR evidenced on cystourethrography. During investigation, the phenotypic findings encouraged the performance of a karyotype that confirmed the alterations found in Phelan-McDermid syndrome. VUR early diagnosis was essential to establish the appropriate therapy, which involved clinical and surgical approaches aimed at improving quality of life, preserving the renal parenchyma and preventing further future complications.

Keywords

• vesico-ureteral reflux
• urology
• genes
• nephrology