RT Journal Article
T1 V232D Mutation in Patients With Cystic Fibrosis: Not So Rare, Not So Mild
A1 Fernández Lorenzo, Ana E.
A1 Moreno Álvarez, Ana
A1 Colón Mejeras, Cristóbal
A1 Barros Angueira, Francisco
A1 Solar Boga, Alfonso
A1 Sirvent Gómez, Josep
A1 Couce Pico, María Luz
A1 Leis Trabazo, María Rosaura
K1 CFTR
K1 Genetic testing
K1 Lung function
K1 newborn screening
K1 Pancreatic insuffciency
AB 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.
PB Wolters Kluwer
SN 0025-7974
YR 2018
FD 2018
LK http://hdl.handle.net/10347/22810
UL http://hdl.handle.net/10347/22810
LA eng
NO Fernández-Lorenzo AE, Moreno-Álvarez A, Colon-Mejeras C, et al. V232D mutation in patients with cystic fibrosis: Not so rare, not so mild. Medicine (Baltimore). 2018;97(28):e11397. doi:10.1097/MD.0000000000011397
DS Minerva
RD 25 abr 2026