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.
Material and Methods
We conducted a retrospective study describing 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
103 patients were included, among whom 79 were symptomatic and 24 presymptomatic carriers. Patients carried 21 different ATTR mutations, and 54% carried the 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 20.3% had a urinary protein/creatinine ratio ≥ 0.5 g/g. None of the presymptomatic carriers had CKD or proteinuria. In a multivariate analysis, late onset of symptom (after 60 years), the V122I mutation, and proteinuria were significantly associated with CKD. Median CKD-free survival in symptomatic patients was estimated 81.0 [77.1; 84.9] years. It did not differ between V30M and non-V30M patients, but was lower in patients with the V122I mutation. The average age of CKD onset was 69.3 ± 13.0 years. In one 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 ATTRv. The role of ATTRv per se in the development of CKD in this population remains to be determined, but some patients may benefit from specific therapies.
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