학술논문
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Document Type
Academic Journal
Author
Deák A; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Koczok K; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Bessenyei B; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Szűcs Z; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Madar L; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Csorba G; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Orosz O; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; Laki I; 2 Tüdőgyógyintézet Törökbálint, Gyermekosztály Törökbálint Magyarország.; Halász A; 3 Országos Korányi Pulmonológiai Intézet, Cisztás Fibrózis Részleg Budapest Magyarország.; Marsal G; 4 Cisztás Fibrózis Betegek Egyesülete Budaörs Magyarország.; Balogh I; 1 Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék Debrecen, Nagyerdei krt. 98., 4032 Magyarország.; 5 Debreceni Egyetem, Általános Orvostudományi Kar, Humángenetikai Tanszék Debrecen Magyarország.
Source
Publisher: Akademiai Kiado Country of Publication: Hungary NLM ID: 0376412 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1788-6120 (Electronic) Linking ISSN: 00306002 NLM ISO Abbreviation: Orv Hetil Subsets: MEDLINE
Subject
Language
Hungarian
Abstract
Introduction: Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations.
Objective: In order to develop a diagnostic strategy for cystic fibrosis and to facilitate mutation-specific treatments, the genetic revision of the Hungarian Cystic Fibrosis Registry was performed.
Method: 582 patients' data and samples were used for the revision (528 originally included in the register and 54 received during the revision). First we reviewed the patients' existing genetic findings. Wherever necessary, a comprehensive three-level genetic analysis of the CFTR gene was done.
Results: According to our study, of the 528 patients present in the Registry, 395 (74.8%) had 2 pathogenic CFTR mutations. We completed and corrected 94 patients' previously incomplete genetic status. 73 different pathogenic variants were described, in which 1 aberration was not previously reported (c.3130G>A). The 5 most common mutations were: F508del (68.4%); CFTRdele2,3 (3.7%); G542X (3.2%); 2184insA (2.7%); W1282X (2.3%). Based on genotype and age, in Hungary 211 patients are eligible for the available lumacaftor-ivacaftor combination therapy, and 361 patients for the ivacaftor-tezacaftor-elexacaftor therapy.
Conclusion: Due to the revision, we could identify the patients who can benefit from mutation-specific drugs instead of symptomatic therapy. In addition, the data obtained have been used to map the Hungarian distribution of mutations in the CFTR gene, which will help to develop a diagnostic strategy. Orv Hetil. 2022; 163(51): 2052-2059.
Objective: In order to develop a diagnostic strategy for cystic fibrosis and to facilitate mutation-specific treatments, the genetic revision of the Hungarian Cystic Fibrosis Registry was performed.
Method: 582 patients' data and samples were used for the revision (528 originally included in the register and 54 received during the revision). First we reviewed the patients' existing genetic findings. Wherever necessary, a comprehensive three-level genetic analysis of the CFTR gene was done.
Results: According to our study, of the 528 patients present in the Registry, 395 (74.8%) had 2 pathogenic CFTR mutations. We completed and corrected 94 patients' previously incomplete genetic status. 73 different pathogenic variants were described, in which 1 aberration was not previously reported (c.3130G>A). The 5 most common mutations were: F508del (68.4%); CFTRdele2,3 (3.7%); G542X (3.2%); 2184insA (2.7%); W1282X (2.3%). Based on genotype and age, in Hungary 211 patients are eligible for the available lumacaftor-ivacaftor combination therapy, and 361 patients for the ivacaftor-tezacaftor-elexacaftor therapy.
Conclusion: Due to the revision, we could identify the patients who can benefit from mutation-specific drugs instead of symptomatic therapy. In addition, the data obtained have been used to map the Hungarian distribution of mutations in the CFTR gene, which will help to develop a diagnostic strategy. Orv Hetil. 2022; 163(51): 2052-2059.