2017, Cilt 26, Sayı 3, Sayfa(lar) 347-350
Chronic Kidney Disease in a Boy with Enuresis: The Diagnosis Behind the Smile
DOI 10.5262/tndt.2017.1003.17
Belde Kasap DEMİR1, Robert HALL2, William G NEWMAN2
1İzmir Katip Çelebi University, Faculty of Medicine, Department of Pediatric Nephrology, İzmir, Turkey
2University of Manchester, Manchester Centre for Genomic Medicine, Manchester, England
Keywords: Urofacial syndrome, Chronic kidney disease, Enuresis, Children

A 13-year-old boy was admitted with enuresis. He had no history of urinary tract infection, daytime incontinence or fecal incontinence. Previously performed ultrasound had revealed bilateral hydroureteronephrosis and trabeculated bladder. Voiding cystoureterography had detected multiple diverticuli without reflux. Renal scan had revealed reduced uptake with multiple renal scarring and diuretic renogram had shown bilateral obstruction. Urodynamic evaluation had revealed non-compliant hyperactive bladder and significant residual volume. Laboratory tests had been consistent with chronic kidney disease and he had been referred to our clinic. On admission, he was diagnosed with urofacial syndrome, due to the grimacing expression while trying to smile on physical examination, and the diagnosis was further confirmed by genetic analysis during follow-up. This case was reported to increase the awareness of physicians about this rare cause of chronic kidney disease as early diagnosis is mandatory. Asking the patient to smile would easily lead to the diagnosis.

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