Caracterización de pacientes atendidos en el Hospital de Niños de la Santísima Trinidad, incorporados al Registro Nacional de Fibrosis Quística / RENAFQ. 2012-2018
The Cystic Fibrosis (FQ) is a recessive genetic disease (incidence of 1: 7200 newborns in Argentina) which involves dysfunctional exocrine glands, and therefore chronic multisistemic alteration. An early diagnosis (screening on newborns) and a qualified management in a specia...
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| Autores principales: | , , , , , |
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| Formato: | Artículo revista |
| Lenguaje: | Español |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2019
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/25719 |
| Aporte de: |
| Sumario: | The Cystic Fibrosis (FQ) is a recessive genetic disease (incidence of 1: 7200 newborns in Argentina) which involves dysfunctional exocrine glands, and therefore chronic multisistemic alteration. An early diagnosis (screening on newborns) and a qualified management in a specialized center will determine the patient's life expectancy, apart from AP their genetic mutations (involve with the mutation severity). The National Register of Cystic Fibrosis (RENAFQ) is a data management system that has been implemented since 2012. The Children's Hospital Center (HNC) partakes in the RENAFQ with 116 patients. The relative data has not been fully collected.
The objective was to characterize patients with FQ attended at the HNC, admitted at RENAFQ during 2012 to 2018. Material and methos: descriptive, observational study. The study included all patients attended at the HNC during 2012 to 2018 and those who were already registered in RENAFQ. Patients whose information wasn't complete for diagnosis, were excluded. The data was collected on the basis of the corresponding clinical records for its analysis, description and summary. All deceased patients were registered.
Sampling 116 patients. Males 51%. 56% do not come from Córdoba city. The average age for diagnosis was at 3,5 months (5 days of life to 16 years old). Only the 30% were by newborns screening), instead most of them were through compatible symptoms. The predominant method of diagnosis was sweat test. Only 27,6% had molecular diagnosis. Pancreatic insufficiency in 77 patients (66%). Bacterial colonization: Staphylococcus aureus 48 (41%); Pseudomona aeruginosa 22 (19%) and Staphylococcus aureus resistance to meticilin 14 (12%). 23 patients passed away. Only 3 underwent pulmonary transplant.
The center for Cystic Fibrosis of HNC has an important casuistry; it receives patients from the whole province Córdoba. Nowadays symptoms analysis diagnosis is still the prevalent suspect method. Chronic colonization for Pseudomona accounts only for 19% of the cases. The information on RENAFQ is still incomplete and without the evolution from 2018. It wild be essential to increase the number or patients to the genetic diagnosis and keep RENAFQ updated to improve self-assesment possibilities in comparison to other world centers.
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