2022, Number 6
Methodology for the integral attention to patient with genodermatoses
Language: Spanish
References: 20
Page:
PDF size: 500.25 Kb.
ABSTRACT
The genodermatoses constitutes a group of genetic diseases with affectation of the skin and their annexes. In Cuba, the National Program of Diagnostic, Attention and Prevention of Genetic diseases, in relation to the genodermatoses, don't have protocols for their diagnosis, treatment and pursuit. The objective of this study is to evaluate a methodology for the attention to the patients with genodermatosis. Was carried out in The Tunas, oriental county of Cuba, a quasi-experimental study, being applied the varying Delphy of the method of experts, being consulted a group of Cuban specialists of dermatology, genetics clinical doctor and pediatrics, with high scientific level and experience in the work with patient with genodermatoses. Being designed the methodology that proposes the protocol of the diagnosis, treatment and pursuit algorithm for these patients. 395 patients were studied assisted in the provincial Department of Medical Genetics. Were studied the prevalence rate, the stocking of cases diagnosed per year, the proportion of presented complications, the index of survival and lethality index and to relate the relating variables to the improvement of the state dermatologic and extracutaneous manifestations the statistical test of square Chi of Mc-Nemar was used, with a significance statistical p≤0,05. After having implemented the methodology, prevailed the neurofibromatosis, Ehlers Danlos syndrome and ichthyosis vulgaris; the stocking of cases diagnosed per year increased; they diminished the complications, prevailing the piodermitis (6.13%); the index of mortality was low (1.27%) with high index of survival (98.73%) and improvement of the manifestations dermatologic (MCNemar X2=90.41558, P=0.000000) and extracutaneous (McNemar X2=24.083334, P=0.000001). The methodology designed for the attention to patient with genodermatoses strengthens the National Program of Diagnostic, Attention and Prevention of Genetic Illnesses, demonstrating to be effective, with bigger number of diagnosed cases, smaller proportion of complications, high survival, low lethality and clinical improvement of the dermatologic and extracutaneous manifestations.REFERENCES
Orraca M. Caracterización epidemiológica, clínica y genética de la neurofibromatosis 1 en la provincia Pinar del Río. [Tesis]. Pinar del Río: Universidad de Ciencias Médicas Pinar del Río; 2014. [citado: 03/6/2020] Disponible en: https://repositorioslatinoamericanos.uchile.cl/handle/2250/140461?show=full10. .
Marcheco B, Rojas I, Lantigua A, Benítez Y, Suárez B. Manual de normas y procedimientos. Servicios de Genética médica en Cuba. [Internet]. La Habana: Editorial Ciencias Médicas; 2017. [citado 9/12/2022]. Disponible en: http://www.bvs.sld.cu/libros_texto/manual_normas_proced_genetica/manual_normas_procedim_genetica1.pdf12. .
López A, Calatayud V, Casado E, Tobajas LM. La OMS ha identificado 5.000 enfermedades raras, sin contar las ultra raras. Redacción Médica. [Internet]. 2018 [citado 4/4/2020]. Disponible en: https://www.redaccionmedica.com/secciones/privada/la-oms-ha-identificado-5-000-enfermedades-raras-sin-contar-las-ultra-raras-784616. .
Sánchez Marcos SB. Neurofibromatosis tipo 1 y síndrome de Legius en el servicio de pediatría del hospital Miguel Servet y experiencia con las hojas de información. [Tesis doctoral]. Zaragoza: Universidad de Zaragoza; 2021. [citado 8/01/2022] Disponible en: https://zaguan.unizar.es/record/106189/files/TESIS-2021-161.pdf17. .
Torres B, Portal JA, Mederos Y, Martínez G, Lantigua A, Rodríguez C, et al. Respuesta inmune humoral en pacientes cubanos con genodermatosis atendidos en el hospital pediátrico Juan Manuel Márquez. Rev Cubana Genética Comunitaria. [Internet]. 2015 [citado 9/01/2022]; 9(3). Disponible en: http://bvs.sld.cu/revistas/rcgc/v9n3/rcgc050315.html18. .