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1. Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening

Author

Silvia Gartner, Pedro Mondéjar-López, Óscar Asensio de la Cruz, María José Alonso, Marina Álvarez, Anselmo Andrés Martín, María Isabel Barrio Gómez de Agüero, María Jesús Cabero Pérez, Pilar Caro Aguilera, María Cols Roig, Isidoro Cortell Aznar-Pérez, Jordi Costa Colomer, Isabel Delgado Pecellín, Amparo Escribano Montaner, Joan Figuerola Mulet, Gloria García Hernández, Pilar Guayarte, David Gil Ortega, David Gómez Pastrana, Adelaida Lamas Ferreiro, José Luis Marín Soria, Carlos Martín de Vicente, Martín Navarro Merino, Concepción Oliva Hernández, Javier Pérez Frías, Estela Pérez Ruiz, Sandra Rovira Amigo, Antonio Salcedo Posadas, Manuel Sánchez-Solís, Josep Sirvent Gómez, Carlos Vázquez Cordero, and José Ramón Villa Asensi

Subjects
Fibrosis quística, Cribado neonatal, Protocolo de diagnóstico y seguimiento, Pediatrics, RJ1-570
Abstract

Newborn screening (NBS) for cystic fibrosis (CF) is well-established in many countries and provides the opportunity for an early diagnosis and treatment before the development of irreversible structural lung damage.In 1999, Catalonia, Castilla-León, and the Balearic Islands started the NBS programme for CF. In the last 10 years its implementation rapidly spread and all the autonomies offer the NBS programme for CF since 2015. There are many different strategies across Spain. It is believed that it is very opportune to have an updated and consensual guide for the diagnosis, follow-up, and treatment of patients diagnosed by neonatal screening. Resumen: El diagnóstico de fibrosis quística (FQ) a través del cribado neonatal (CN) está bien establecido en muchos países y brinda la oportunidad de un diagnóstico y tratamiento temprano antes del desarrollo de daño estructural pulmonar irreversible.En 1999, Cataluña, Castilla-León y las Islas Baleares iniciaron el programa CN para FQ. En los últimos 10 años su implementación se extendió rápidamente y todas las autonomías ofrecen el programa CN para FQ desde 2015. Hay varias estrategias diferentes en toda España. Creemos que es muy oportuno contar con una guía actualizada y consensuada para el diagnóstico, el seguimiento y el tratamiento de los pacientes diagnosticados de FQ mediante CN.

Published
2019
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2. Right ventricular dysfunction in adolescents with mild cystic fibrosis

Author

Elena Blanco-Iglesias, Alejandro Lopez-Neyra, Antonio Salcedo-Posadas, Antonio Baño-Rodrigo, Jose Ramon Villa-Asensi, and Amalia Tamariz-Martel

Subjects
Pulmonary and Respiratory Medicine, Male, Vital capacity, medicine.medical_specialty, Elevated pulmonary artery pressure, Adolescent, Genotype, Heart Ventricles, Ventricular Dysfunction, Right, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Severity of Illness Index, Pulmonary function testing, FEV1/FVC ratio, Tissue Doppler echocardiography, Pulmonary Heart Disease, Internal medicine, medicine, Humans, Pediatrics, Perinatology, and Child Health, Prospective Studies, Child, Subclinical infection, business.industry, Respiratory disease, medicine.disease, Myocardial Contraction, Right ventricular function, Echocardiography, Doppler, Color, Respiratory Function Tests, Echocardiography, Pediatrics, Perinatology and Child Health, Cardiology, Female, Tricuspid Valve, business
Abstract

Background In cystic fibrosis (CF) patients the right ventricle (RV) suffers a progressive deterioration, but it is not clear when these changes begin. The aim of this study was to analyze the RV function in CF patients with mild respiratory disease. Methods Color-Doppler-Echocardiographic studies were prospectively performed in CF adolescent patients and an age-matched control group. Findings were correlated with pulmonary function tests (PFT), genotype, chronic bacterial colonization, pancreatic status and clinical scores. Only patients with mild CF were selected. Results Thirty seven CF patients and 40 healthy controls were recruited. In CF patients all echocardiographic parameters were abnormal compared to controls. Doppler analysis showed slightly elevated pulmonary artery pressure values, and abnormal relaxation and systolic function for all indexes. No correlation was found with any of the features studied. Conclusions In CF patients, abnormalities in the structure and function of the RV may be present at early stages of the disease. These abnormalities are subclinical and do not correlate with clinical scores, PFT, genotype, chronic bacterial colonization or pancreatic insufficiency.

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