MO045: Kidney involvement in hereditary transthyretin amyloidosis: a cohort study of 103 patients

Abstract

Abstract BACKGROUND AND AIMS Hereditary transthyretin amyloidosis (ATTR) is a disabling and life-threatening disease that primarily affects the nervous system and heart. Its kidney involvement has been poorly studied and is not well known to nephrologists. METHOD We conducted a retrospective study describing kidney phenotype of all prevalent patients with ATTR mutations, with symptomatic amyloidosis or asymptomatic carriers, followed-up in two university hospitals from the South of France, between June 2011 and June 2021. RESULTS 103 patients were included, among whom 79 were symptomatic and 24 asymptomatic carriers, and 54% carried a V30M mutation. After a mean follow-up of 7.9 ± 25.7 years, 30.4% of the symptomatic patients had developed chronic kidney disease (CKD) and 20.7% had a urinary protein/creatinine ratio ≥0.5 g/g. None of the asymptomatic carriers had CKD or proteinuria. Median CKD-free survival in the global cohort was 81.0 years, and the average age of CKD onset was 69.3 ± 13.0 years. In a multivariate analysis, late onset of ATTR symptoms (after 60 years), the V122I mutation and proteinuria were significantly associated with CKD. In a 38-year-old V30M female, who presented a kidney-predominant phenotype, treatment with Patisiran resulted in remission of the nephrotic syndrome. CONCLUSION CKD affects almost one-third of patients with symptomatic ATTR amyloidosis. The role of ATTR amyloidosis per se in the development of CKD in this population remains to be determined, but some patients may benefit from specific therapies.