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WCN24-2395 FAMILIAL GLOBAL AND FOCAL GLOMERULOSCLEROSIS: AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE (ADTKD) DUE TO C.610C>G MUTATION IN UMOD GENE

2024; Elsevier BV; Volume: 9; Issue: 4 Linguagem: Inglês

10.1016/j.ekir.2024.02.727

2468-0249

NADIA VIVIANA FRETES, M Rosenberg, Elisabet Mónica Elisabet Mónica, Pablo Javier Azurmendi, Pablo Bridoux, Rita Marcela Fortunato, Pablo Raffaele,

Renal Diseases and Glomerulopathies

Unknown etiology is usually found in the kidney pre-transplant routine program, which accounts for 25% of our recipients' database. This missing information is in detriment to the prognosis of these patients. We developed a preliminary screening to detect and study recipients that showed the following characteristics: Hypertension with no clear origin, and biopsies that do not meet with the clinical features of the classical glomerulopathies. The aim of this study is to explore clinical, genealogical and genetic landscape in a 45 years old index case with early hypertension and biopsy that showed global and focal glomerulosclerosis without immune deposits that wait for a non-related living donor kidney transplant.