Epidemiologia de la poliquistosis renal autosómica dominante en el área sanitaria de Granadavalor del diagnóstico genético preimplantacional en prevención primaria

  1. Ana Isabel Morales García 8
  2. José Luis Navarro Espigares 9
  3. Margarita Martínez Atienza 10
  4. María García Valverde 8
  5. Juan Fontes Jiménez 11
  6. Antonio Martínez Morcillo 12
  7. Mª Angustias Esteban de la Rosa 13
  8. Pablo de Diego Fernández 1
  9. Manuel J. García Montero 2
  10. José Antonio Castilla Alcalá 11
  11. María Dolores Prados Garrido 8
  12. Antonio Navas Parejo 8
  13. Miguel García González 3
  14. Esther Fernández García 4
  15. Tesifón Parrón Carreño 5
  16. Rafael Fernández Castillo 6
  17. Irene Argüelles Toledo 11
  18. Elisa Hernández Torres 7
  19. Juan Antonio Bravo Soto 8
  20. Rafael José Esteban de la Rosa 8
  1. 1 UGC Pediatría, CHU Granada
  2. 2 Dirección Médica, CHU Granada
  3. 3 Laboratorio de Nefrología. CHU Santiago de Compostela, La Coruña
  4. 4 Geniality. Madrid
  5. 5 Departamento de Ciencias de la Salud. Universidad de Almería
  6. 6 Departamento de Ciencias de la Salud. Universidad de Granada
  7. 7 Subdirección Control de Operaciones, CHU Granada
  8. 8 UGC Nefrología, CHU Granada
  9. 9 ubdirección Control de Operaciones, CHU Granada
  10. 10 UGC Laboratorio Clínico, Genética, CHU Granada
  11. 11 Unidad de Reproducción, UGC Laboratorio Clínico y UGC Ginecología y Obstetricia, CHU Granada
  12. 12 UGC Urología, CHU Granada
  13. 13 UGC Churriana de la Vega, Granada
Revista:
Diálisis y trasplante: publicación oficial de la Sociedad Española de Diálisis y Trasplante

ISSN: 1886-2845

Ano de publicación: 2018

Volume: 39

Número: 1

Páxinas: 15-19

Tipo: Artigo

Outras publicacións en: Diálisis y trasplante: publicación oficial de la Sociedad Española de Diálisis y Trasplante

Resumo

Background: ADPKD is the hereditary kidney disease that most frequently causes renal failure. On the one hand, we do not know its magnitude and distribution outside the scope of renal replacement therapy (RRT). On the other hand, we do not have curative treatment and dialysis or transplantation are used when they are necessary, and involve a high health expenditure. However, we can act by avoiding transmission through assisted human reproduction (RHA) techniques such as preimplantation genetic diagnosis (PGD). Objectives: To know the global situation of the ADPKD in Granada, and to compare the cost of the patient with ADPKD that needs RRT against the cost of preventing the transmission of the disease to the offspring by PGD. Methods: We analyzed socio-demographic variables, disease, dynasties, geographical location and genealogical trees of our registry. To compare the costs of the RRS versus PGD, the cost of the RRS is obtained from the literature and estimated according to the frequency of each treatment in the ADPKD population. The cost of the PGD is calculated according to the costs of the RHA procedure in a public hospital, adding the cost of the PGD. From the information collected in our registry has estimated the average amount of the patient type during the course of the natural history of his illness. Results: We can point out that, on the one hand, most of them are outpatients, they are concentrated in geographical areas and many are still to be identified. On the other hand, the disease is diagnosed late, and more than half of the cases have had offspring. Regarding the economic analysis, we can highlight that the average costs of transplantation and dialysis are much higher than those used to prevent the transmission of the disease (€ 5,500). The difference in favor of the preventive strategy would be maintained even if several cycles of PGD and cryotransference are needed until the goal of getting a newborn free of disease is reached. Conclusions: Since ADPKD does not have curative treatment, it is advisable to know better the overall situation of the disease, including those outside the scope of RRT and in reproductive age, where information measures along with the strategy of enhancing PGD help reduce their frequency, helping to make the public health system sustainable.