Aralde A, Montanari D, Fernández SA, Barros MI, Gargiulo C

Language: Spanish
References: 15
Page: 130-134
PDF size: 449.27 Kb.

ABSTRACT

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.

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