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Renal involvement and Strømme syndrome
Gianluca Caridi1, Francesca Lugani1, Margherita Lerone2
1Laboratory of Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
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.
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