Abstract

ARALDE, Adriana et al. Frasier syndrome: ambiguous genitalia and end-stage chronic kidney disease in childhood. Case report. Rev. nefrol. dial. traspl. [online]. 2021, vol.41, n.2, pp.61-70. ISSN 2346-8548.

We report the case of a patient with Frasier syndrome: nephropathy, gonadal dysgenesis and progressive and severe kidney damage during childhood. Frasier syndrome is a rare disorder that causes end-stage chronic kidney disease, usually in young adults -second or third decades of life. Nephropathy presents with proteinuria, beginning during childhood, occasionally with nephrotic syndrome; its characteristic histological lesion is a focal segmental glomerulosclerosis, resistant to treatment with corticosteroids and/or immunosuppressants. Frasier syndrome is caused by mutations in the Wilms’ tumor suppressor gene, or WT1 gene, located on the short arm of chromosome 11: Cr11p23.

Keywords : síndrome de Frasier; genitales ambiguos; enfermedad renal crónica terminal; tumor de Wilms.

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