A 4-year-old boy presenting with persistent urinary incontinence: Questions

AbstractA 4-year-old boy was referred to the nephrologist with daytime urinary incontinence and suspicion of an overactive bladder. At the age of 17  months he had been referred to the pediatric endocrinologist because of polyuria and polydipsia in order to exclude diabetes insipidus. Repeated water deprivation tests and a magnetic resonance imaging scan of the brain were normal. Diabetes insipidus was excluded, and primary polydipsia was thoug ht to be most likely since diabetes mellitus also had been excluded. At the current presentation, he drank up to 3 L a day and quite often had wet diapers. He also seemed to pass stools infrequently and with difficulty. Curiously his grandmother had similar symptoms of polyuria and polydipsia since childhood and had been diagnosed with primary polydipsia. The physical examination of our pediatric patient was normal. In the differential diagnosis we included diabetes insipidus but also contemplated other possibilities, such as nephronophthisis, tubulopathies and hypercalciuria. Laboratory resu lts including urinalysis and an ultrasound of the kidney did not show any abnormalities, making a tubulopathy or hypercalciuria unlikely. A desmopressin test by the intravenous route came back completely normal, pointing to another cause than diabetes insipidus. Genetic testing for the nephronophthi sis came back negative but was positive for a missense mutation in theAVPR2 gene (p.Arg104Cys) associated with partial nephrogenic diabetes ...
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research

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