TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features

Gulati et al1 described a family with thrombotic microangiopathy and chronic kidney disease with a caryboxy-terminal frameshift mutation in TREX1 (D278Efs*48). This and other carboxy-terminal frameshift TREX1 mutations are known to cause retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).2-4 In a large study with 78 patients from 11 unrelated families, we observed that neuroimaging reveals white matter lesions with or without nodular enhancement (97%), rim-enhancing mass lesions (84%), and calcifications (52%).