Renal involvement and Strømme syndrome

Abstract

Strømme syndrome is a rare autosomal recessive congenital disorder involving multiple systems. Centromeric protein F (CENPF) is the causative gene of the disease, and variants are usually linked to lethal outcomes either during the foetal stage or in early life. We present a young adult with a genetic diagnosis of Strømme syndrome who—in addition to classic microcephalia, microphthalmia and intestinal atresia (apple peel-type)—experienced slow and unexpected evolution to end-stage renal disease (ESRD). In conclusion, Strømme syndrome is a complex multiorgan disease that needs multidisciplinary clinical management, and potential evolution to ESRD should be taken into account.