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Varianti di rischio APOL1 e esiti in bambini con anomalie congenite del rene e del tratto urinario.

Vendrig LM, Ke J, Tanck MWT, Lim TY, Martinelli E, Bodria M, et al.

Pediatric nephrology (Berlin, Germany)·1 giugno 2026·DOI ↗

BACKGROUND: APOL1 high-risk variants predispose to chronic kidney disease (CKD) in individuals of African genetic ancestry due to podocyte toxicity. As congenital anomalies of the kidney and urinary tract (CAKUT) have variable outcomes potentially driven by podocyte injury, we hypothesize that the outcome of children with CAKUT is influenced by APOL1 risk genotypes. METHODS: APOL1 risk status was determined in children and adults with CAKUT from African genetic ancestry using DNA microarrays or exome sequencing. Phenotypic information and CKD outcomes at last follow-up were collected. We computed odds ratios (OR) and hazard ratios between APOL1-high risk (HR) vs. low risk (LR) carriers unde

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🔒 Metodologia, numeri e implicazioni pratiche

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