Pos-099 a Rare Complicaton of Autosomal Dominant Polycystic Kidney Disease: The Subdural Hygroma

Abstract

Personal history of inbreeding. Resulting from a complicated hydramnios pregnancy with low birth weight. Followed since the age of 10 months for failure to thrive and facial dysmorphism with an episode of meningoencephalitis at the age of 1 year. The diagnosis of bartter syndrome was made at the age of 3 years due to hypokalaemia with high kaliuresis, metabolic alkalosis with polyuropolydipsia treated with potassium supplementation and NSAIDs. In view of hydramnios, dysmorphia and deafness, type IV bartter was suspected, confirmed by a genetic study showing the mutation of the BSND gene. After 15 years of follow-up after the positive diagnosis, polyuria was moderate at 3l / d with hypokalaemia at 2.2 mmol / l and moderate renal failure. This observation is distinguished by the association of bartter syndrome with deafness and a facial dysmorphism, as well as a progressive evolution despite the severity of the initial presentation. Conclusions: Bartter's syndrome is a rare condition whose prognosis is dominated by the severity of the hydroelectrolyte disturbances and the risk of chronic kidney disease. Type IV is a rare neonatal form associated with neurogenic deafness that progresses early to chronic renal failure. The immediate severity of this disease requires careful monitoring of pregnancy and birthNo conflict of interest