The present patient was referred at the age of 5 days because of fever of unknown origin and weight loss. The diagnosis of nephrogenic diabetes insipidus (NDI) was based on high serum sodium concentration, low urinary osmolality, and fluid depression test. Analysis of arginine vasopressin receptor 2 (AVPR2) indicated a missense mutation [p.V88M (c.262G>A)]. To reduce the urine volume, he started trichlormethiazide at age 1 year, and mefenamic acid at age 6 years, with little success) daily urine volume, 3–5 L/day). The patient had repeated urinary tract infection (UTI) several times a year.At age 10 years, renal and bladder ultrasound (RBUS) for dilation of the urinary tract showed megacystis megaureter and moderate hydronephrosis (Society for Fetal Urology grade III). Voiding cystourethrography (VCUG) showed trabeculation of the bladder wall without obstruction of the bladder neck and urethra, as well as an increased bladder volume (>300 mL). On the basis of these findings, it was considered that persistent polyuria due to congenital NDI caused the dilatation of the urinary tract. To reduce the intravesical pressure, intermittent self‐catheterization was started seven times per day.At age 12 years, the patient presented with recurrent abdominal pain and fever. On thorough medical history taking, the symptoms started after stressful
Pediatrics International – Wiley
Published: Jun 1, 2017
Keywords: ; ; ;
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