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Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience
Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge considering the great variability of clinical presentation and multiorgan involvement. In the present study, we report the prevalence of kidney involvement and kidney function over time in a cohort of ATTRv pat...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394946/ https://www.ncbi.nlm.nih.gov/pubmed/34439599 http://dx.doi.org/10.3390/brainsci11080980 |
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author | Ferraro, Pietro Manuel D’Ambrosio, Viola Di Paolantonio, Andrea Guglielmino, Valeria Calabresi, Paolo Sabatelli, Mario Luigetti, Marco |
author_facet | Ferraro, Pietro Manuel D’Ambrosio, Viola Di Paolantonio, Andrea Guglielmino, Valeria Calabresi, Paolo Sabatelli, Mario Luigetti, Marco |
author_sort | Ferraro, Pietro Manuel |
collection | PubMed |
description | Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge considering the great variability of clinical presentation and multiorgan involvement. In the present study, we report the prevalence of kidney involvement and kidney function over time in a cohort of ATTRv patients with different transthyretin gene mutations. Patients and Methods: For this study, we systematically collected data from all patients with a diagnosis of ATTRv followed at the Neurology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. Kidney involvement was defined as presence of estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m(2) obtained with CKD-EPI equation, abnormal urinary protein excretion (UPE) (>150 mg/24 h) and/or albuminuria > 30 mg/24 h (or mg/g creatinine). The analysis included data from 46 patients with 122 measurements of serum creatinine. Results: Among the 46 patients included in the analysis, kidney involvement was present in 37%, with 15% showing reduced eGFR and 22% abnormal UPE (63% of patients with available UPE data). No single predictor was associated with either eGFR values or its slope over time. Conclusions: Kidney involvement is quite common in patients with ATTRv regardless of the underlying genetic variant. In particular, abnormal UPE appears to be a common feature of the disease. |
format | Online Article Text |
id | pubmed-8394946 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83949462021-08-28 Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience Ferraro, Pietro Manuel D’Ambrosio, Viola Di Paolantonio, Andrea Guglielmino, Valeria Calabresi, Paolo Sabatelli, Mario Luigetti, Marco Brain Sci Article Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge considering the great variability of clinical presentation and multiorgan involvement. In the present study, we report the prevalence of kidney involvement and kidney function over time in a cohort of ATTRv patients with different transthyretin gene mutations. Patients and Methods: For this study, we systematically collected data from all patients with a diagnosis of ATTRv followed at the Neurology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. Kidney involvement was defined as presence of estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m(2) obtained with CKD-EPI equation, abnormal urinary protein excretion (UPE) (>150 mg/24 h) and/or albuminuria > 30 mg/24 h (or mg/g creatinine). The analysis included data from 46 patients with 122 measurements of serum creatinine. Results: Among the 46 patients included in the analysis, kidney involvement was present in 37%, with 15% showing reduced eGFR and 22% abnormal UPE (63% of patients with available UPE data). No single predictor was associated with either eGFR values or its slope over time. Conclusions: Kidney involvement is quite common in patients with ATTRv regardless of the underlying genetic variant. In particular, abnormal UPE appears to be a common feature of the disease. MDPI 2021-07-24 /pmc/articles/PMC8394946/ /pubmed/34439599 http://dx.doi.org/10.3390/brainsci11080980 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Ferraro, Pietro Manuel D’Ambrosio, Viola Di Paolantonio, Andrea Guglielmino, Valeria Calabresi, Paolo Sabatelli, Mario Luigetti, Marco Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title | Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title_full | Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title_fullStr | Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title_full_unstemmed | Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title_short | Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience |
title_sort | renal involvement in hereditary transthyretin amyloidosis: an italian single-centre experience |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394946/ https://www.ncbi.nlm.nih.gov/pubmed/34439599 http://dx.doi.org/10.3390/brainsci11080980 |
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