Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jul 24;11(8):980.
doi: 10.3390/brainsci11080980.

Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience

Pietro Manuel Ferraro  1   2 , Viola D'Ambrosio  1   2 , Andrea Di Paolantonio  2 , Valeria Guglielmino  2   3 , Paolo Calabresi  2   3 , Mario Sabatelli  2   4 , Marco Luigetti  2   3
Affiliations

Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience

Pietro Manuel Ferraro et al. Brain Sci. .

Abstract

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 m2 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.

Keywords: Sudoscan; TTR; amyloid; nephropathy; neuropathy; proteinuria.

PubMed Disclaimer

Conflict of interest statement

Pietro Manuel Ferraro received grants/consultant fees from Allena Pharmaceuticals, Alnylam, AstraZeneca, BioHealth Italia, Vifor Fresenius; Marco Luigetti received financial grants (honoraria and speaking) from Ackea, Alnylam and Pfizer, and travel grants from Ackea, Alnylam Pfizer, Kedrion and Grifols; Paolo Calabresi received research grants from: Bayer, Schering, Biogen, BoehringerIngelheim, Eisai, Novartis, Lundbeck, Merck Sharp & Dohme, Sanofi-Aventis, Sigma-Tau, and UCB Pharma; Andrea Di Paolantonio received travel grants from Pfizer; Mario Sabatelli received financial grants (honoraria and speaking) from Ackea and Alnylam, and travel grants from Grifols; Valeria Guglielmino and Viola D’Ambrosio have no potential conflicts of interest to be disclosed. Pietro Manuel Ferraro and Viola D’Ambrosio are members of the European Reference Network for Rare Kidney Diseases (ERKNet)—Project ID No 739532. Marco Luigetti and Mario Sabatelli are members of the European Reference Network for Neuromuscular Diseases—Project ID N° 870177.

Figures

Figure 1
Figure 1
Strip plot of eGFR by variant.
See this image and copyright information in PMC

References

    1. Pinto M.V., Dyck P.J.B., Liewluck T. Neuromuscular amyloidosis: Unmasking the master of disguise. Muscle Nerve. 2021;64:23–36. doi: 10.1002/mus.27150. Online ahead of print. - DOI - PubMed
    1. Dember L.M. Amyloidosis-associated kidney disease. J. Am. Soc. Nephrol. 2006;17:3458–3471. doi: 10.1681/ASN.2006050460. - DOI - PubMed
    1. Luigetti M., Romano A., Di Paolantonio A., Bisogni G., Sabatelli M. Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care. Ther. Clin. Risk Manag. 2020;16:109–123. doi: 10.2147/TCRM.S219979. - DOI - PMC - PubMed
    1. Benson M.D., Kincaid J.C. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411–423. doi: 10.1002/mus.20821. - DOI - PubMed
    1. Adams D., Koike H., Slama M., Coelho T. Hereditary transthyretin amyloidosis: A model of medical progress for a fatal disease. Nat. Rev. Neurol. 2019;15:387–404. doi: 10.1038/s41582-019-0210-4. - DOI - PubMed