Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V of the ApoA4 protein. We identified two other distantly related families from our registry with the same variant and two other distantly related families with a ch11:116693454 C>T (hg19) variant encoding the missense mutation p.D33N.

Source: Kidney International - December 11, 2023 Category: Urology & Nephrology Authors: Tereza Kmochov á, Kendrah O. Kidd, Andrew Orr, Aleš Hnízda, Hana Hartmannová, Kateřina Hodaňová, Petr Vyleťal, Karolína Naušová, Vítězslav Brinsa, Helena Trešlová, Jana Sovová, Veronika Barešová, Klára Svojšová, Alena Vrbacká, Viktor Tags: clinical investigation Source Type: research