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Case Reports
. 2020 Jan 25;14(1):439-441.
doi: 10.1093/ckj/sfz189. eCollection 2021 Jan.

Renal involvement and Strømme syndrome

Gianluca Caridi  1 , Francesca Lugani  1 , Margherita Lerone  2 , Maria Teresa Divizia  2 , Gian Marco Ghiggeri  1 , Enrico Verrina  3
Affiliations
Case Reports

Renal involvement and Strømme syndrome

Gianluca Caridi et al. Clin Kidney J. .

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.

Keywords: Strømme syndrome; centromeric protein F (CENPF); dialysis; end-stage renal disease; rare disease.

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Figures

FIGURE 1
FIGURE 1
Renal length related to (A) patient age and (B) patient height (left kidney: circles and right kidney: squares). (C) Renal ultrasound at 7 years of age. (D) Summary table with available data for serum creatinine, height and glomerular filtration rates between the ages of 3 and 9 years.
See this image and copyright information in PMC

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