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

ABSTRACT:

Background

Hereditary transthyretin amyloidosis (ATTRv) is a disabling and life-threatening disease that primarily affects the nervous system and heart. Its kidney involvement has not been systematically studied, particularly in non-V30M mutations, and is not well known to nephrologists.

Methods

We conducted a retrospective study describing the kidney phenotype of all prevalent patients with ATTR mutations, with neurological or cardiac involvement or presymptomatic carriers, followed up in two university hospitals from the South of France between June 2011 and June 2021.

Results

A total of 103 patients were included, among whom 79 were symptomatic and 24 were presymptomatic carriers. Patients carried 21 different ATTR mutations and 54% carried the V30M mutation. After

SUBMITTER: Solignac J 

PROVIDER: S-EPMC9394715 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature