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- Title
Renal involvement and Strømme syndrome.
- Authors
Caridi, Gianluca; Lugani, Francesca; Lerone, Margherita; Divizia, Maria Teresa; Ghiggeri, Gian Marco; Verrina, Enrico
- 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.
- Subjects
CONGENITAL disorders; CHRONIC kidney failure; SYNDROMES; HUMAN chromosome abnormality diagnosis; YOUNG adults; ESOPHAGEAL atresia
- Publication
Clinical Kidney Journal, 2021, Vol 14, p439
- ISSN
2048-8505
- Publication type
Article
- DOI
10.1093/ckj/sfz189