TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD —A Novel Presentation

We present a pedigree with autosomal dominant renal TMA and chronic kidney disease found to have a carboxy-terminal frameshift TREX1 variant. Although symptomatic brain and retinal microangiopathy is known to associate with carboxy-terminal TREX1 mutations, this report describes a carboxy-terminal TREX1 frameshift variant causing predominant renal TMA. These findings underscore the clinical importance of recognizing TREX1 mutations as a cause of renal TMA. This case demonstrates the value of whole-exome sequencing in unsolved TMA.
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research