MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS WITH VESICOURETERAL REFLUX: A PEDIATRIC CASE REPORT

Abstract

Mitochondrial respiratory chain disorders (MRCD) constitute a highly heterogeneous group both with regard to clinical manifestations and underlying genetic/biochemical defects. Management of urological complications such as vesicoureteral reflux (VUR) has not been discussed in cases with MRCD. We report a pediatric case of MRCD with recurrent urinary tract infections (UTI) due to primary and secondary VUR.A 6-month-old boy with multiple malformations and a history of aspiration pneumonia was referred to our department for febrile UTI (fUTI). Voiding cystourethrography showed high-grade left VUR and a normal bladder. As a spontaneous resolution of VUR was not observed, he underwent left ureteral reimplantation concomitant with left orchidopexy at the age of 1 year and 7 months. Although he had fUTI immediately after surgery, no recurrence of the UTI occurred after discharge. At the age of 3 years, he had septic shock and cardiac arrest caused by aspiration pneumonia, as well as, encephalopathy following cardiopulmonary resuscitation. At this event, the diagnosis of MRCD was achieved by liver biopsy. Since the age of 4 years, he has had repeated fUTI. VCUG confirmed the bladder deformity and right VUR. He underwent vesico-cutaneostomy at the age of 6 years. The postoperative course was uneventful. No recurrence of UTI was observed at the one-year follow-up.