Approach to kidney transplant candidates with hereditary transthyretin (TTR) amyloidosis and TTR variants: Case reports and mini-review

Abstract

Evaluating kidney transplant candidates with transthyretin (TTR) variants requires a multidisciplinary approach, considering clinical, genetic, and psychosocial factors. Hereditary transthyretin amyloidosis, an autosomal dominant disorder, can affect cardiovascular and renal allograft health, complicating transplant candidacy. We present 2 cases of Black women with end-stage kidney disease of unknown etiology, identified with the pathogenic Val142Ile TTR variant during transplant evaluation. Cardiac assessments, including technetium-99m pyrophosphate scintigraphy and biopsy, ruled out cardiac amyloidosis, enabling transplant eligibility. This highlights the growing role of genetic testing in kidney transplant clinics and the need for collaboration among nephrologists, cardiologists, and genetic counselors for optimal patient management.