P0079STRATEGIC ACTION FOR POLYCYSTIC KIDNEY DISEASE IN GALICIA. POPULATION APPROACH MODEL EXPORTABLE TO OTHER AUTONOMOUS COMMUNITIES. (6th June 2020)

• Record Type: Journal Article
• Authors: Besada Cerecedo, Lara; Arhda, Nisrine; Barcia de la Iglesia, Ana Maria; Garcia Murias, Maria; Carrera Cachaza, Noa; Investigadores GalCYST, Consorcio; Garcia Gonzalez, Miguel
• Is Part Of: Nephrology dialysis transplantation. Volume 35(2020)Supplement 3
• Publication Date: 2020-06-06
• Subjects: Nephrology -- Periodicals; Hemodialysis -- Periodicals; Kidneys -- Transplantation -- Periodicals; Hemodialysis; Kidneys -- Transplantation; Nephrology; Periodicals; 616.61
• DOI: 10.1093/ndt/gfaa142.P0079
• Languages: English
• ISSNs: 0931-0509

Abstract

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 with the disease Method: We develop panels for the simultaneous study of the currently known candidate genes, using ultrasequencing technologies (NGS). Each index case is analyzed by NGS and in the rest of the family members, the presence / absence of the eventual mutation identified is analyzed by Sanger Sequencing.Patient clinical data were collected to establish the genotype-phenotype correlation Results: NefroCHUS has a historical record of 224 Galician families with PKD. Since January 1, 2016, 306 new PKD families have been identified from hospitals belonging to the three Galician health areas: Coruña - Ferrol (CHUAC (67 families), CHUF (17 families)), Vigo ‐ Ourense (CHOP (44 families), CHUOU (43 families), CHUVI (32 families) and Povisa (18 families)) and Santiago-Lugo (HULA (35 families), HCB (22 families) and CHUS (28 families)), for a total record of 530 PKD families identified based on clinical criteria. Carrying out genetic studies allowed the calculation of gene mutagenicity rates for each health area: Coruña-Ferrol (58% PKD1, 36% PKD2 and 6% GANAB), Vigo-Ourense (80% PKD1, 15% PKD2 and 5 % other genes) and Santiago-Lugo (53% PKD1, 44% PKD2 and 3% GANAB). Taking into account the families of the historical record, mutagenicity rates in the Galician population are distributed as follows: 70% PKD1, 28% PKD2 and 2% other genes. So far 446 patients have been phenotypically characterized. The average age of diagnosis was 38 years, the main reason being family history (59%; n = 264). 73% of the patients presented arterial hypertension (AHT) with an average detection age of 42 years (range 6-82 years). 21% of the patients (n = 92) iniciated renal replacement therapy with a mean age of 49 years (38-80 years). The presence of liver cysts proved to be a very frequent extrarenal manifestation (67.9%; n = 303). Other manifestations to highlight are: low back pain (27%; n = 119), cystic kidney infection (7.4%; n = 33) or the presence of intracranial aneurysms (3.1%; n = 14) Conclusion: It has been established the genetic map of the Autosomal Dominant Polycystic Kidney Disease in Galicia and at the same time a model of population approach in hereditary diseases that is exportable to other autonomous communities.