Noa Carrera Cachaza

#3125 Proteomic insights into the molecular mechanisms of autosomal dominant polycystic kidney disease (ADPKD) using mIMCD3 cells

Raquel Martínez Pulleiro, Ana María Barcia de la Iglesia, Laura Núñez González, Susana B. Bravo et autres

Abstract Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, primarily caused by mutations in the PKD1 (80%) and PKD2 (15%) genes. Other cases are either genetically unresolved or due to mutations in less common …

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#1165 HNF1B genotype-phenotype correlation in renal patients from Galicia

Adela Urisarri Ruiz de Cortázar, María García Murias, Ana María Barcia de la Iglesia, Laura Núñez González et autres

Abstract Background and Aims The HNF1B gene encodes a transcription factor that regulates gene expression in various tissues, including pancreatic beta-cells, kidneys, liver, intestines, and neurons, playing crucial roles during embryonic and postnatal development. Genes regulated by Hnf1b are involved in key …

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Novel Approach to Enhance the Sensitivity of Hereditary Renal Hypouricemia Detection via the Relationship Between Serum Uric Acid and Its Fractional Excretion

Pedro Fortes-González, Adela Urisarri, Noa Carrera Cachaza, Miguel A. García-González

Background: Hereditary Renal Hypouricemia (HRH) is characterized by low Serum Uric Acid (SUA) levels and high Fractional Excretion of Uric Acid (FEUA) due to defective urate tubular reabsorption. Generally asymptomatic, it can cause exercise-induced acute kidney injury; and although global incidence is …

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Proteomic Characterization of ADPKD Pathogenesis in Monoclonal mIMCD3 Cells

Raquel Martínez Pulleiro, Ana Barcia de la Iglesia, Laura Núñez-González, Susana B. Bravo et autres

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most prevalent inherited kidney disorder, mainly caused by mutations in PKD1 and PKD2. ADPKD leads to progressive renal cyst formation, culminating in kidney failure and the need for renal replacement therapy. Despite research …

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Genetics behind the Phenotypic Spectrum of Polycystic Kidney Disease

Raquel Martínez Pulleiro, Ana Barcia de la Iglesia, Catarina Allegue, Noa Carrera Cachaza et autres

Background: Polycystic kidney disease (PKD) is an inherited disorder with a broad range of clinical presentations. The most common form is autosomal dominant PKD (ADPKD), caused by mutations in PKD1 or PKD2 genes. ADPKD typically manifests in adulthood, leading to bilateral kidney …

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Phenotypic-Genotypic Relationship of Focal and Segmental Glomerulosclerosis (FSGS)

A Tato, Noa Carrera Cachaza, María García-Murias, Amir Shabaka et autres

Background: FSGS can be of primary, secondary or genetic origin. The objective of our work is to establish in which patients with a histological diagnosis of FSGS a genetic etiology should be suspected Methods: The study included adult patients with a histological …

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RICORS2040: the need for collaborative research in chronic kidney disease

Alberto Ortíz, Marta Roger, Víctor Jiménez, José Carlos Rodríguez Pérez et autres

Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of CKD is relatively young and uptake by the public, physicians and health authorities is not widespread. Physicians still confuse CKD with chronic kidney insufficiency or failure. For …

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P0079STRATEGIC ACTION FOR POLYCYSTIC KIDNEY DISEASE IN GALICIA. POPULATION APPROACH MODEL EXPORTABLE TO OTHER AUTONOMOUS COMMUNITIES

Lara Besada Cerecedo, Nisrine Arhda, Ana María Barcia de la Iglesia, María García Murias et autres

Abstract Background and Aims The Strategic Action for Polycystic Kidney Disease (PKD) in Galicia was started in 2016, as a population strategy model (genetic cascade study) coordinated between the reference hospitals in this region, with the objective of diagnosing cost-effectively Galician families …

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Development of strategies for genetic diagnosis of hereditary glomerulopathies, tubulopathies and cystic kidney diseases by the sequencing sets of genes

María Lara Besada Cerecedo, Noa Carrera Cachaza, María García Murias, Ana María Barcia de la Iglesia et autres

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Estudio genético en esquizofrenia: análisis de variantes funcionales para la identificación de factores de predisposición

Noa Carrera Cachaza

La esquizofrenia es un trastorno psiquiatrico severo que afecta a poblaciones de todo el mundo. Entre los sintomas mas caracteristicos predominan una alteracion de la afectividad, falta de empatia y aparicion de brotes psicoticos, por lo que provoca una significativa disfuncion social. …