ESPE Abstracts

Background: WS is a rare, severe neurodegenerative disease. Despite the certain sequence of development of clinical manifestations during this syndrome, for each patient the expression of the spectrum, sequence, age and severity of the disease is unique. In recent years, the cases of urinary tract dysfunction (UTD) in this syndrome have also increased. We had 2 such cases with UTD in our practice. Here we report one of them.

Case presentation: This case report presents the clinical course of a 9-year-old female diagnosed with WS, manifesting as DM at age 3.10, early onset of bladder dysfunction clinically revealed as daily and nocturnal incontinence due to overflowing bladder (neurogenic bladder) and urinary tract infection (UTI) from the age of 3.11, and DI at age 7. UTI became frequent, urination problems worsened in dynamics. At the age of 7 Ultrasound examination and MRI were revealed bilateral dilatation of renal pelvis, both ureters, bladder distension with a large amount of residual urine(300-400ml). It was prescribed prophylactic antibacterial therapy to prevent UTI. The specific gravity of urine (SG) worsened to 1005, polyuria/polydipsia about 4L/day. Studies were conducted for DI: copeptin<2.7pmol/l, blood osmolality 296mOsm/kg, urine osmolality 126mOsm/kg. A diagnosis of DI was made and replacement therapy with desmopressin started. Genetic testing for the WFS1 gene was not performed due to financial problems. After starting desmopressin treatment, SG was 1015, diuresis 1100ml. The girl initially responded well to desmopressin, but after month symptoms relapsed. At the age of 8 she has polyuria, polydipsia, especially at night. She has been taking minirin 0,3 mg/day, SG-1005, blood creatinine-0,5 mg/dl(N). Fully atony of bladder was developed. A huge bladder was palpated. It was prescribed daily clean-intermittent bladder catheterization to improve bladder emptying. After 1 year, at the age of 9, on a minirin dose of 0.4 mg/day, there is still polyuria/polydipsia>4L, SG-1005. There are no changes in ophthalmological examination. She has intact cognition. Unfortunately, the challenge for adequate treatment is low compliance of patients caregivers and consultation with endocrinologist/nephrologist once a year.

Conclusion: This case is particularly interesting, because the disease started at an early age with DM, UTD was detected almost immediately (currently severe) and DI was diagnosed after 3 years, which confirm the opinion about primary neurodegenerative damage of urinary tract in some patients ant not complication of DI. We can also think that in this case nephrogenic DI may have been added to central DI.