Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

Blasco, Miquel; Quiroga, Borja; García-Aznar, José M.; Castro-Alonso, Cristina; Fernández-Granados, Saulo J.; Luna, Enrique; Fernández Fresnedo, Gema; Ossorio, Marta; Izquierdo, María Jesús; Sanchez-Ospina, Didier; Castañeda-Infante, Laura; Mouzo, Ricardo; Cao, Mercedes; Besada-Cerecedo, María L.; Pan-Lizcano, Ricardo; Torra, Roser; Ortiz, Alberto; de Sequera, Patricia; Eugenia García Montemayor, Victoria; Salgueira Lazo, Mercedes; Mazuecos Blanca, Auxiliadora; Jiménez Salcedo, Tamara; José Espigares Huete, María; Araceli Jiménez Vibora, Elena; Álamo Caballero, Concepción; Banegas Deras, Eduardo J.; Alonso Bethencourt, Alejandro; Rodríguez García, Alejandra; Fernández Granados, Saulo; Fernández Fresnedo, Gema; Calle García, Leonardo; Martín García, Jesús; Estifan Kasabji, Jorge; Jesús Izquierdo, María; Mouzo Mirco, Ricardo; García Agudo, Rebeca; de Arriba de la Fuente, Gabriel; Facundo Molas, Carme; Xipell Font, Marc; Yugueros González, Alejandra; Antóns, Paula; Ibernon Vilaro, Meritxell; de la Fuente Fernández, Vanessa; González Galván, Yussel; Cabezas, Antonio; Castro Alonso, Cristina; Juan García, Isabel; Garín Cascales, Eduardo; Sebastiá Morant, Josepa; Luna Complejo, Enrique; María Díaz Campillejo, Rosa; González Sanchidrián, Silvia; Cao Vilariño Complejo, Mercedes; Sierra Carpio, Milagros; Ortega Díaz, Mayra; Sánchez Hernández, Rosa; Ossorio González, Marta; Vega Martínez, Almudena; Teresa López Picasso, María; Goma, Elena; Giorgi, Martín; Martínez Miguel, Patricia; Gutiérrez Martínez, Eduardo; Paraíso Cuevas, Vicente; Echarri, Rocío; Martínez, Víctor; Pérez Arnedo, Mario; Juliana Castañeda Infante, Laura; Antonio Menacho Miguel, Jose

doi:10.1053/j.ajkd.2024.04.021

American Journal of Kidney Diseases

2024

DOI: 10.1053/j.ajkd.2024.04.021

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Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

Miquel Blasco,

Borja Quiroga,

José M. García-Aznar

et al.

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Cited by 3 publications

References 31 publications

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Registro Español de Enfermos Renales (REER): informe del año 2022 y análisis evolutivo

Quiroga,

Mahíllo,

Mazuecos (SENTRA)

et al. 2024

Nefrología

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Registro Español de Enfermos Renales (REER): informe del año 2022 y análisis evolutivo

Quiroga,

Mahíllo,

Mazuecos (SENTRA)

et al. 2024

Nefrología

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KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease in Children and Adults: a commentary from the European Renal Best Practice (ERBP)

Iatridi,

Carrero,

Gall

et al. 2024

Nephrology Dialysis Transplantation

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The Kidney Disease: Improving Global Outcomes (KDIGO) 2024 Guidelines for identification and management of chronic kidney disease (CKD) are a welcome development coming 12 years after the paradigm changing 2012 guidelines. We are living in an unprecedented era in nephrology with novel therapies, including sodium-glucose cotransporter-2 inhibitors, glucagon-like peptide-1 receptor agonists and non-steroidal mineralocorticoid receptor antagonists now being proven in multiple randomised controlled clinical trials to reduce both the progression of CKD and cardiovascular morbidity and mortality. The KDIGO 2024 CKD guideline is aimed at a broad audience looking after children and adults with CKD and provide practical and actionable steps to improve care. This commentary reviews the guideline sections pertaining to the evaluation and risk assessment of individuals with CKD from a European perspective. We feel that despite the last guideline being published 12 years ago, and that the assessment of CKD has been emphasized by many other national/international nephrology, cardiology and diabetology guidelines and societies, the diagnosis and treatment of CKD remains poor across Europe. As such the KDIGO 2024 CKD Guidelines should be seen as an urgent call to action to improve diagnosis and care of children and adults with CKD across Europe. We know what we need to do. We now need to get on and do it.

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In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates

Gervas-Arruga,

Barba-Romero,

Fernández-Martín

et al. 2024

IJMS

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Fabry disease (FD) is an X-linked lysosomal disease whose ultimate consequences are the accumulation of sphingolipids and subsequent inflammatory events, mainly at the endothelial level. The outcomes include different nervous system manifestations as well as multiple organ damage. Despite the availability of known biomarkers, early detection of FD remains a medical need. This study aimed to develop an in silico model based on machine learning to identify candidate vascular and nervous system proteins for early FD damage detection at the cellular level. A combined systems biology and machine learning approach was carried out considering molecular characteristics of FD to create a computational model of vascular and nervous system disease. A data science strategy was applied to identify risk classifiers by using 10 K-fold cross-validation. Further biological and clinical criteria were used to prioritize the most promising candidates, resulting in the identification of 36 biomarker candidates with classifier abilities, which are easily measurable in body fluids. Among them, we propose four candidates, CAMK2A, ILK, LMNA, and KHSRP, which have high classification capabilities according to our models (cross-validated accuracy ≥ 90%) and are related to the vascular and nervous systems. These biomarkers show promise as high-risk cellular and tissue damage indicators that are potentially applicable in clinical settings, although in vivo validation is still needed.

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Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

Cited by 3 publications

References 31 publications

Registro Español de Enfermos Renales (REER): informe del año 2022 y análisis evolutivo

Registro Español de Enfermos Renales (REER): informe del año 2022 y análisis evolutivo

KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease in Children and Adults: a commentary from the European Renal Best Practice (ERBP)

In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates

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