Exploring the clinical and genetical spectrum of ADPKD in Chile to assess ProPKD score as a risk prediction tool

Simple item page
dc.article.number24
dc.catalogadoraba
dc.contributor.authorBayyad, Esperanza
dc.contributor.authorPlaza, Anita
dc.contributor.authorKlenner, Jaime
dc.contributor.authorDowney Concha, Patricio
dc.contributor.authorSalas, Paulina
dc.contributor.authorMaragaño, Daniela
dc.contributor.authorHerrera, Patricio
dc.contributor.authorLehmann, Paula
dc.contributor.authorQuiroz, Lily
dc.contributor.authorZavala, María J.
dc.contributor.authorOrostica, Karen
dc.contributor.authorFlores, Claudio
dc.contributor.authorArdiles, Leopoldo
dc.contributor.authorMaturana, Jorge
dc.contributor.authorKrall, Paola
dc.date.accessioned2023-10-31T13:02:11Z
dc.date.available2023-10-31T13:02:11Z
dc.date.issued2023
dc.date.updated2023-10-29T00:03:17Z
dc.description.abstractBackground Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition associated primarily with PKD1 and PKD2 genes. However, ADPKD patients in Latin America have had limited access to comprehensive care. The ProPKD score predicts the likelihood of kidney failure before the age of 60. This study aimed to describe the clinical and genetic characteristics of Chilean ADPKD patients and assess the ProPKD score. Methods We enrolled 40 ADPKD probands and 122 relatives from different centers. Genetic analysis of PKD1 and PKD2 genes was performed by combining direct and next-generation sequencing. Pathogenicity was determined using bioinformatic tools. ProPKD scores were calculated based on clinical and genetic data. Results ADPKD probands were diagnosed at a median age of 35 years. Pathogenic, likely pathogenic, or uncertain significance variants were identified in 38/40 pedigrees, with 89% involving PKD1 and 11% involving PKD2 variants. Among the identified variants, 62% were novel. Patients with PKD1 truncating variants had a more severe disease course, reaching kidney failure by a median age of 48.5 years. ProPKD scores were assessed in 72 individuals, stratifying them into high-, intermediate-, or low-risk categories and the median ages for kidney failure were 45, 49, and 52 years, respectively (log-rank p = 0.001). Conclusion This study provides valuable insights into the clinical and genetic profiles of ADPKD patients in Chile. ADPKD poses a significant public health concern, warranting improvements in diagnosis and treatment. The use of the ProPKD score to predict disease progression should be further explored to enhance patient care and management.
dc.fechaingreso.objetodigital2023-10-31
dc.fuente.origenBiomed Central
dc.identifier.doi10.1186/s41231-023-00157-5
dc.identifier.issn2396-832X
dc.identifier.urihttps://doi.org/10.1186/s41231-023-00157-5
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/75199
dc.information.autorucEscuela de Medicina; Downey Concha, Patricio; 0009-0006-6201-4012; 68164
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final13
dc.pagina.inicio1
dc.revistaTranslational Medicine Communications
dc.rightsacceso abierto
dc.subjectADPKD
dc.subjectGenetic analysis
dc.subjectEnd-stage renal disease
dc.subjectProPKD score
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleExploring the clinical and genetical spectrum of ADPKD in Chile to assess ProPKD score as a risk prediction tool
dc.typeartículo
dc.volumen8
sipa.codpersvinculados68164
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
41231_2023_Article_157.pdf
Size:
1.85 MB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.98 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Artículos de revistas