Panorámica de la poliquistosis renal autosómica dominante en una región del sur de España

García, Ana Isabel Morales; Atienza, Margarita Martínez; Valverde, M.; Jiménez, Juan Fontes; Morcillo, Antonio Martínez; Rosa, M.; Fernández, Pablo de Diego; González, Miguel; Castillo, Rafael Fernández; Toledo, Irene Argüelles; Soto, Juan Antonio Bravo; Rosa, Rafael José Esteban de la

doi:10.1016/j.nefro.2017.07.002

Cited by 11 publications

(2 citation statements)

References 7 publications

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“…Our study showed that there is a wide epidemiological variability in the different geographical regions of our country, with a high prevalence in the states and main cities of the periphery, probably related to the effect of georeferenced family clusters and the centralization of RRT in Colombia. This regional difference coincides with observations in other latitudes, where similar studies have been carried out (22,23). The lowest prevalence was found in Quindío and Caquetá, with 0.57 and 0.08 cases per 100,000 people, respectively.…”

Section: Discussionsupporting

confidence: 90%

Autosomal dominant polycystic kidney disease in Colombia

Camargo

González

Herrera

et al. 2023

Preprint

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Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis. Knowing geographical clusters can be a critical point for early diagnosis, progression control and genetic counseling. The objective was to establish the prevalence, geographic location, and racial distribution of patients with ADPKD who underwent dialysis or kidney transplant in Colombia between 2015 and 2019. Methods: Cross-sectional study with data from the national registry of chronic kidney disease (NRCKD) managed by the High Cost Diseases Fund (Cuenta de Alto Costo [CAC] in Spanish) between July 1, 2015, and June 30, 2019. Colombian residents who reported with CKD with or without renal replacement therapy (RRT) due to polycystic kidney disease were included. Crude and adjusted prevalence rates were estimated by state and city. Results: The ADPKD period prevalence was 9.81 per 100,000 people, there were 4.35 cases of RRT per 100,000 people, mean age 52.58 years (±13.21) and 52.78% women. Seventy-six patients were Afro-Colombians, 6 indigenous and 1 gypsy. A total of 46.07% began scheduled dialysis. The highest adjusted prevalence rate was in Valle del Cauca (6.55 cases per 100,000 people), followed by Risaralda, La Guajira and Amazonas. Regarding cities, Cali had the highest prevalence rate (9.38 cases per 100,000 people), followed by Pasto, Medellin and Bucaramanga. Conclusions: ADPKD prevalence is lower compared to Europe and USA, some states with higher prevalence will be objective to genetic prevalence study.

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Section: Discussionsupporting

confidence: 90%

Autosomal dominant polycystic kidney disease in Colombia

Camargo

González

Herrera

et al. 2023

Preprint

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“…While next-generation sequencing (NGS) has been clinically applied for PGT-M [ 13 ], this method has not yet been used for ADPKD cases. In familial ADPKD, the genetic and clinical heterogeneity can obscure the causal mutation in some cases, but a family history of the disease is known in one, two, or even three different generations [ 14 ]. This phenomenon facilitates performing PGT-M by PCR through linkage analysis [ 2 , 7 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer

Pardo

Martínez-Conejero

Martin

et al. 2020

Genes

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also manifest extra-renally, and seminal cysts have been associated with male infertility in some cases. ADPKD-linked male infertility, along with female age, have been proposed as factors that may influence the clinical outcomes of preimplantation genetic testing (PGT) for monogenic disorders (PGT-M). Large PGT for aneuploidy assessment (PGT-A) studies link embryo aneuploidy to increasing female age; other studies suggest that embryo aneuploidy is also linked to severe male-factor infertility. We aimed to assess the number of aneuploid embryos and the number of cycles with transferable embryos in ADPKD patients after combined-PGT. The combined-PGT protocol, involving PGT-M by PCR and PGT-A by next-generation sequencing, was performed in single trophectoderm biopsies from 289 embryos in 83 PGT cycles. Transferable embryos were obtained in 69.9% of cycles. The number of aneuploid embryos and cycles with transferable embryos did not differ when the male or female had the ADPKD mutation. However, a significantly higher proportion of aneuploid embryos was found in the advanced maternal age (AMA) group, but not in the male factor (MF) group, when compared to non-AMA and non-MF groups, respectively. Additionally, no significant differences in the percentage of cycles with transferable embryos were found in any of the groups. Our results indicate that AMA couples among ADPKD patients have an increased risk of aneuploid embryos, but ADPKD-linked male infertility does not promote an increased aneuploidy rate.

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