Kidney involvement in hereditary transthyretin amyloidosis: is there a role for cystatin C?

D’Ambrosio, Viola; Ferraro, Pietro Manuel; Guglielmino, Valeria; Luigetti, Marco

doi:10.1093/ckj/sfac156

Cited by 3 publications

(3 citation statements)

References 3 publications

(7 reference statements)

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“…Biomarkers are available and very helpful as disease process parameters for the detection and follow-up of cardiac disease (troponin T and NT-proBNP), liver disease (alkaline phosphatase, gammaglutamyl transferase and bilirubin) and kidney disease (urea, creatinine, proteinuria and cystatin C) in amyloidosis [2,19]. Therefore, there is a clear need for an early and sensitive serum or plasma biomarker for polyneuropathy, for neuropathy progression and for assessing the effect of treatment on neuropathy in systemic amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Berends,

Nienhuis,

Adams

et al. 2024

Preprint

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Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. Neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. This systematic review provides an overview on the value of NfL in early detection of neuropathy, central nervous system involvement, monitoring of neuropathy progression, and treatment effect in systemic amyloidosis. A literature search in PubMed, Embase and Web of Science was performed on 14-02-2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene variant (TTRv) carriers. Only studies containing original data were included. Included were twelve full-text articles and six abstracts describing 1604 participants: 298 controls and 1306 TTRv carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has potential to be used for early detection of neuropathy, monitoring treatment effect, and monitoring disease progression in patients with systemic amyloidosis.

show abstract

Section: Introductionmentioning

confidence: 99%

Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Berends,

Nienhuis,

Adams

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Biomarkers are available and very helpful as disease-process parameters for the detection and follow-up of cardiac disease (troponin T and N-terminal pro-brain-type natriuretic peptide (NT-proBNP)), liver disease (alkaline phosphatase, gamma-glutamyl transferase, and bilirubin), and kidney disease (urea, creatinine, proteinuria, and cystatin C) in amyloidosis [2,21]. Therefore, there is a clear need for an early and sensitive serum or plasma biomarker for polyneuropathy, for neuropathy progression and for assessing the effect of treatment on neuropathy in systemic amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review

Berends,

Nienhuis,

Adams

et al. 2024

IJMS

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Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. The neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. There is a need for an early and sensitive blood biomarker for polyneuropathy, and this systematic review provides an overview on the value of NfL in the early detection of neuropathy, central nervous system involvement, the monitoring of neuropathy progression, and treatment effects in systemic amyloidosis. A literature search in PubMed, Embase, and Web of Science was performed on 14 February 2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene-variant (TTRv) carriers. Only studies containing original data were included. Included were thirteen full-text articles and five abstracts describing 1604 participants: 298 controls and 1306 TTRv carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following the initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease-process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has the potential to be used for the early detection of neuropathy, monitoring treatment effects, and monitoring disease progression in patients with systemic amyloidosis.

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“…In the literature, it has been reported in about one-third of Portuguese/early-onset Val30Met patients [ 1 , 6 , 7 ]. Conversely, in late-onset cases, kidney involvement has generally been considered rare, but recent papers showed how renal function may also be impaired in 30% of late-onset ATTRv patients [ 8 , 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Trajectories of Kidney Function in Patients with ATTRv Treated with Gene Silencers

Luigetti

Guglielmino

Romano

et al. 2022

Genes

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Hereditary transthyretin amyloidosis (ATTRv; v for “variant”) is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. This disease has a significant variability in clinical presentation and multiorgan involvement. While kidney involvement in early-onset ATTRv has been reported in one-third of patients, in late-onset ATTRv it has generally been considered rare. In the present study, we describe trajectories of kidney function over time before and after treatment with gene silencing therapies in a cohort of 17 ATTRv patients with different mutations, coming from Italy (nine subjects treated with inotersen and eight patients treated with patisiran). The analysis of estimated glomerular filtration rate (eGFR) slopes revealed that the average change in eGFR was 0.01 mL/min/1.73 m2 per month before initiation and −0.23 mL/min/1.73 m2 per month during follow-up for inotersen and −0.62 mL/min/1.73 m2 per month before initiation and −0.20 mL/min/1.73 m2 per month during follow-up for patisiran. In conclusion, we did not observe any significant difference either between the two groups of treatment or within-group before and after therapy, so gene-silencing therapies may be considered safe for renal function in ATTRv and are not associated with a worsening of eGFR slope.

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Kidney involvement in hereditary transthyretin amyloidosis: is there a role for cystatin C?

Cited by 3 publications

References 3 publications

Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review

Trajectories of Kidney Function in Patients with ATTRv Treated with Gene Silencers

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