V232D mutation in patients with cystic fibrosis
| Autor: | Francisco Barros-Angueira, Alfonso Solar-Boga, María L. Couce, Ana Moreno-Álvarez, Cristóbal Colon-Mejeras, Ana Estefanía Fernández-Lorenzo, Rosaura Leis, Josep Sirvent-Gómez |
|---|---|
| Přispěvatelé: | Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Genetic testing Gastroenterology Cystic fibrosis 03 medical and health sciences 0302 clinical medicine Recurrent pancreatitis Pancreatic insuffciency Internal medicine medicine In patient CFTR Lung function Newborn screening medicine.diagnostic_test newborn screening business.industry General Medicine medicine.disease 030104 developmental biology 030228 respiratory system Mutation (genetic algorithm) business |
| Zdroj: | Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela instname |
| ISSN: | 0025-7974 |
| DOI: | 10.1097/md.0000000000011397 |
| Popis: | The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.695T > A). The aim of this study was to describe CF patients with the V232D mutation. We identify CF children with the V232D mutation detected by NBS and compare them with CF adults with this mutation whose diagnosis was prompted by clinical symptoms in the same period. We studied clinical, biochemical, spirometric, and prognostic features in both populations. NBS program tested 276,523 children during a period of 14 years (2003-2017) and identified 54 cases of CF. Six children (11%) had the V232D mutation. Over the same period, 5 adults (age 37.6 ± 16.29 years old) with symptoms of CF and this mutation were also diagnosed. Follow-up duration was mean 10.1 years for adults and mean 6.5 years for children. In the adult group, lung function was impaired at diagnosis in all patients (Forced Expiratory Volume1-FEV1-67.12% ± 13.09) and worsened in children tested during evolution (FEV1first: 113%; FEV1last: 64%). Pancreatic insufficiency was present in adult group, with recurrent pancreatitis in 1 present. Although with less clinical expression in children, V232D is associated with pulmonary and pancreatic involvement during adulthood and CF cannot be considered mild. This mutation is present in 11% of all patients diagnosed with CF in our region. Its inclusion in some NBS programs should be taken into account in order to improve the prognosis of affected children. SI |
| Databáze: | OpenAIRE |
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