The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients

Manwaring, Victoria; Heywood, Wendy; Clayton, Robert J.; Lachmann, Robin; Keutzer, Joan; Hindmarsh, Peter C.; Winchester, Bryan; Heales, Simon; Mills, Kevin

doi:10.1021/pr301200e

Cited by 56 publications

(47 citation statements)

References 34 publications

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“…Moreover, another advantage of using urine, instead of blood, is its easy and non‐invasive collection that allows repeated sampling for disease monitoring. In the last years, several studies have been performed, in urines, aiming to identify biomarkers that can detect early stages of DN and progressive kidney function decline in diabetic patients, as well as biomarkers that can allow for a non‐invasive diagnosis of kidney disease (Chang et al ., ; Chu et al ., ; Manwaring et al ., ; Merchant et al ., ; Lewandowicz et al ., ; Siwy et al ., ; Vitova et al ., ; Wheelock et al ., ).…”

Section: Diabetic Nephropathymentioning

confidence: 99%

The role of mass spectrometry in studies of glycation processes and diabetes management

DaRonco

Crotti

Agostini

et al. 2018

Mass Spectrometry Reviews

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In the last decade, mass spectrometry has been widely employed in the study of diabetes. This was mainly due to the development of new, highly sensitive, and specific methods representing powerful tools to go deep into the biochemical and pathogenetic processes typical of the disease. The aim of this review is to give a panorama of the scientifically valid results obtained in this contest. The recent studies on glycation processes, in particular those devoted to the mechanism of production and to the reactivity of advanced glycation end products (AGEs, AGE peptides, glyoxal, methylglyoxal, dicarbonyl compounds) allowed to obtain a different view on short and long term complications of diabetes. These results have been employed in the research of effective markers and mass spectrometry represented a precious tool allowing the monitoring of diabetic nephropathy, cardiovascular complications, and gestational diabetes. The same approaches have been employed to monitor the non‐insulinic diabetes pharmacological treatments, as well as in the discovery and characterization of antidiabetic agents from natural products. © 2018 Wiley Periodicals, Inc. Mass Spec Rev 38:112–146, 2019.

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Section: Diabetic Nephropathymentioning

confidence: 99%

The role of mass spectrometry in studies of glycation processes and diabetes management

DaRonco

Crotti

Agostini

et al. 2018

Mass Spectrometry Reviews

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“…Another study, involving 10 paediatric Fabry patients, found that, following 12 months of ERT, prosaposin was the only protein significantly reduced and that another GM 2 activator protein was also decreased in urine [56]. …”

Section: Biomarkers and Imaging Findingsmentioning

confidence: 99%

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

et al. 2017

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Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.

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“…Prosaposin and ganglioside GM 2 activator protein were significantly elevated in patients with Fabry disease and ERT was associated with a significant reduction in urinary excretion of these proteins. Therefore, these urinary biomarker models may useful as diagnostic tools for patients with Fabry disease, as well as for monitoring response to ERT [107]. However, there is still work to be done to identify a biomarker that truly reflects disease activity and progression, as well as enabling responses to ERT to be measured.…”

Section: Areas For Further Researchmentioning

confidence: 99%

Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?

Waldek

Feriozzi

2014

BMC Nephrol

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Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, epithelial cells and the tubular cells of the distal tubule and loop of Henle contribute to the renal symptoms of Fabry disease, which manifest as proteinuria and reduced glomerular filtration rate leading to chronic kidney disease and progression to end-stage renal disease. Early diagnosis and timely initiation of treatment of Fabry renal disease is an important facet of disease management. Initiating treatment with enzyme replacement therapy (ERT; agalsidase alfa, Replagal®, Shire; agalsidase beta, Fabrazyme®, Genzyme) as part of a comprehensive strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline. Early initiation of ERT may also be more effective than initiating therapy in patients with more advanced disease. Several strategies are required to complement the use of ERT and treat the myriad of associated symptoms and organ involvements. In particular, patients with renal Fabry disease are at risk of cardiovascular events, such as high blood pressure, cardiac arrhythmias and stroke. This review discusses the management of renal involvement in Fabry disease, including diagnosis, treatments, and follow-up, and explores recent advances in the use of biomarkers to assist with diagnosis, monitoring disease progression and response to treatment.

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The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients

Cited by 56 publications

References 34 publications

The role of mass spectrometry in studies of glycation processes and diabetes management

The role of mass spectrometry in studies of glycation processes and diabetes management

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?

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