Historia natural de la poliquistosis renal autosómica dominante en Córdoba: utilidad de una base de datos para agrupar familias y mutaciones

Cabello, Mario Espinosa; Vázquez, Inmaculada Ansio; Portero, Isabel Espejo; Fuentes, David Rodriguez; Ruiz, Cristina Rabasco; Hernández, Mario Espinosa

doi:10.1016/j.nefro.2022.05.004

Cited by 1 publication

(1 citation statement)

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“…Hereditary kidney disease (HKD) encompasses a large group of disorders of genetic cause, the frequency of which is still not well known, with the exception of autosomal dominant polycystic kidney disease (ADPKD), whose prevalence according to our registry, reported in the 2020 Report of the Autosomal Dominant Polycystic Kidney Disease Study Group (ADPKD Study Group), is between 66-100 cases per 100,000 inhabitants (3,4).…”

Section: Introductionmentioning

confidence: 99%

Precision Diagnosis of Chronic Kidney Disease: Genetics Makes the Difference

Garcia,

Andujar,

Garcia

et al. 2023

Preprint

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A significant number of renal patients suffer from some hereditary nephropathy and are unaware of it. The information we have, derived from the clinical history and imaging tests, may be adequate to diagnose cases such as autosomal dominant polycystic kidney disease (ADPKD), but insufficient to diagnose other pathologies and at this point, molecular study provides support. We analyse the agreement between clinical and genetic diagnosis in 383 patients with renal disease to evaluate the usefulness of molecular analysis as a tool to reach an accurate diagnosis. Genetic testing was performed by massive sequencing on probands with chronic renal disease and suspected genetic cause from 2018 to 2022. Clinical-genetic diagnostic agreement in patients with ADPKD was 45%, however, in other less prevalent inherited pathologies, such as Alport syndrome drops to 26%, perhaps due to their diverse phenotypic spectrum, where autosomal dominant inheritance pattern is the most frequent. Additionally, we report the history of a family with hereditary chronic kidney disease where different clinical were proposed. The molecular study identified a new variant in COLA4A gene, present in heterozygosity in all affected individuals and the diagnosis of AS was pointed out. Genetics offers an approach to precision diagnosis of renal disease. Its availability helps clinician to better classify individuals and families, makes it easier for patients to participate in specific clinical trials and to choose reproductive options that prevent the transmission of the disease to offspring, which will contribute to reducing the frequency of hereditary nephropathy in the future.

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Section: Introductionmentioning

confidence: 99%