The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition
DOI:
https://doi.org/10.35839/repis.5.2.1008Palabras clave:
fibrosis quistica, bronquiectasias, mutacion c.3274T>CResumen
La FQ es una enfermedad autosómica recesiva que requiere la presencia de mutaciones en ambos alelos del gen regulador de la conductancia transmembrana de la FQ (CFTR). La mutación c.3274T> C (p.Tyr1092His) no está registrada en la base de datos del “proyecto CFTR2”, pero está registrada en la base de datos de mutaciones de genes humanos. Ademas otras dos mutaciones DNAAF4 c.1177C> T (p.Leu393Phe) y DNAAF5 c.1195G> A (p.Glu399Lys) encontradas en el "Proyecto CFTR", son actualmente inciertas en sus consecuencias clínicas. A continuación, presentamos el caso de una mujer peruana que presenta esta mutación, bronquiectasias y pérdida de función pulmonar y se proporciona una revisión de la literatura.
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Elborn JS. Adult Care in Cystic Fibrosis. Semin Respir Crit Care Med 2019;40(6):857–868. doi: 10.1055/s-0039-3400289
Garcia B, Flume PA. Pulmonary Complications of Cystic Fibrosis. Semin Respir Crit Care Med 2019;40(6):804–9. doi. 10.1055/s-0039-1697639
Bergeron C, Cantin AM. Cystic Fibrosis: Pathophysiology of Lung Disease. Semin Respir Crit Care Med 2019;40(6):715–26. doi. 10.1055/s-0039-1694021
Castellani C, Linnane B, Pranke I, Cresta F, Sermet-Gaudelus I, Peckham D. Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. Semin Respir Crit Care Med 2019;40(6):801-14. doi: 10.1055/s-0039-1697961
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermetg I, Schwarz M, Tzetisi M, Wilschanskij M, Bareilb C, Bilton D, Castellani C, Cuppensm H, Cutting GR, Dˇrevínek P, Farrellp P, Elbornq JS, Jarvir K, Kerems B, Keremt E, Knowlesu M, Macek M, Munckw A, Radojkovic D, Seiay M, Sheppardz DN, Southernaa KW, Stuhrmannab M, Tullis E, Zielenskiad J, Pignatti PF, Fereca C. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3
Cuyx S, De Boeck K. Treating the underlying Cystic Fibrosis Transmembrane Regulator defect in patients with cystic fibrosis. Semin Respir Crit Care Med 2019;40(6):762–74. doi: 10.1055/s-0039-1696664
Pérez MM, Luna MC, Pivetta OH, Keyeux G. CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros 2007;6:194–208.
Aquino R, Protzel A, Rivera J, Abarca H, Dueñas M, Nestarez C, purizaga N, Diringer B. Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR. Rev Peru Med Exp Salud Publica. 2017;34(1):62–9.
Sánchez K, de Mendonca E, Matute X, Chaustre I, Villalón M, Takiff H. Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants. Appl Clin Genet. 2016 Mar 8;9:33-8. doi: 10.2147/TACG.S78241
Lay-son G, Puga A, Astudillo P, Repetto GM. Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations. J Cyst Fibros 2011;10(1):66–70. doi: 10.1016/j.jcf.2010.10.002
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017;181S:S4-S15.e1. doi: 10.1016/j.jpeds.2016.09.064
Castellani C, Cuppens H, Jr MM, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinicalpractice. J Cyst Fibros 2008;7:179–96.
Sosnay PR, Salinas DB, White TB, Ren CL, Farrell PM, Raraigh KS, Girodon E, Castellani C. Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses. J Pediatr 2016;181:S27-S32.e1. doi: 10.1016/j.jpeds.2016.09.063
Prontera P, Isidori I, Mencarini V, Pennoni G, Mencarelli A, Stangoni G, Di Cara G, Verrotti A. A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184 insA Allele: Implications for Screening. Public Health Genomics 2016; 19:336–41. doi: 10.1159/000450849
Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet 2013;50:455-62. doi: 10.1136/jmedgenet-2013-101602
