Article
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney international - 1 Apr 2024
Kmochová Tereza, Kidd Kendrah O, Orr Andrew, Hnízda Aleš, Hartmannová Hana, Hodaňová Kateřina, Vyleťal Petr, Naušová Karolína, Brinsa Vítězslav, Trešlová Helena, Sovová Jana, Barešová Veronika, Svojšová Klára, Vrbacká Alena, Stránecký Viktor, Robins Victoria C, Taylor Abbigail, Martin Lauren, Rivas-Chavez Ana, Payne Riley, Bleyer Heidi A, Williams Adrienne, Rennke Helmut G, Weins Astrid, Short Patrick J, Agrawal Varun, Storsley Leroy J, Waikar Sushrut S, McPhail Ellen D, Dasari Surendra, Leung Nelson, Hewlett Tom, Yorke Jake, Gaston Daniel, Geldenhuys Laurette, Samuels Mark, Levine Adam P, West Michael, Hůlková Helena, Pompach Petr, Novák Petr, Weinberg Richard B, Bedard Karen, Živná Martina, Sikora Jakub, Bleyer Anthony J, Kmoch Stanislav
Abstract excerpt
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...
Read the complete abstract on PubMed