How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.

CKD GWAS genetics precision medicine

Journal

Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269

Informations de publication

Date de publication:
31 Jan 2022
Historique:
received: 30 11 2021
revised: 17 01 2022
accepted: 24 01 2022
entrez: 25 2 2022
pubmed: 26 2 2022
medline: 26 2 2022
Statut: epublish

Résumé

Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs: the risk of CKD in individuals with an affected first degree relative has been found to be three times higher than in the general population. Genetic factors are known to be involved in CKD pathogenesis, both due to the possible presence of monogenic pathologies as causes of CKD, and to the role of numerous gene variants in determining susceptibility to the development of CKD. The genetic study of CKD patients can represent a useful tool in the hands of the clinician; not only in the diagnostic and prognostic field, but potentially also in guiding therapeutic choices and in designing clinical trials. In this review we discuss the various aspects of the role of genetic analysis on clinical management of patients with CKD with a focus on clinical applications. Several topics are discussed in an effort to provide useful information for daily clinical practice: definition of susceptibility to the development of CKD, identification of unrecognized monogenic diseases, reclassification of the etiological diagnosis, role of pharmacogenetics.

Identifiants

pubmed: 35207681
pii: jpm12020193
doi: 10.3390/jpm12020193
pmc: PMC8875178
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

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Auteurs

Doloretta Piras (D)

Struttura Complessa di Nefrologia, Dialisi e Trapianto, ARNAS Brotzu, 09134 Cagliari, Italy.

Nicola Lepori (N)

Struttura Complessa di Nefrologia, Dialisi e Trapianto, ARNAS Brotzu, 09134 Cagliari, Italy.

Gianfranca Cabiddu (G)

Struttura Complessa di Nefrologia, Dialisi e Trapianto, ARNAS Brotzu, 09134 Cagliari, Italy.
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, 09134 Cagliari, Italy.

Antonello Pani (A)

Struttura Complessa di Nefrologia, Dialisi e Trapianto, ARNAS Brotzu, 09134 Cagliari, Italy.
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, 09134 Cagliari, Italy.
Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerce (CNR), 09042 Monserrato, Italy.

Classifications MeSH