COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

被引：0

作者：

Sebastiao, Fernanda Medeiros ^{[1
]}

Michelin-Tirelli, Kristiane ^{[1
]}

Bender, Fernanda ^{[1
]}

Lopes, Franciele Fatima ^{[1
]}

Moraes, Inamara ^{[1
]}

Kubaski, Francyne ^{[1
]}

Giugliani, Roberto ^{[1
,2
]}

Burin, Maira ^{[1
]}

机构：

[1] Hosp Clin Porto Alegre HCPA, Serv Genet Med, Rua Ramiro Barcelos 2350, BR-90035303 Porto Alegre, RS, Brazil

[2] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil

来源：

GENETICS AND MOLECULAR BIOLOGY | 2022年 / 45卷 / 01期

关键词：

COVID-19; Inborn Errors of Metabolism; lysosomal disorders; reference center; Brazil; MANAGEMENT;

D O I：

10.1590/1678-4685-GMB-2021-0253

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagnosis of patients with IEM during the first year of the pandemic in Brazil comparing two distinct periods: from March 1st, 2019 to February 29th, 2020 (TIME A) and from March 1st, 2020 to February 28th, 2021 (TIME B), by the analysis of the number of tests and diagnoses performed in a Reference Center in South of Brazil. In the comparison TIME A with TIME B, we observe a reduction in the total number of tests performed (46%) and in the number of diagnoses (34%). In both periods analyzed, mucopolysaccharidoses (all subtypes combined) was the most frequent LD suspected and/or confirmed. Our data indicates a large reduction in the number of tests requested for the investigation of IEM and consequently a large reduction in the number of diagnoses caused by the COVID-19 pandemic leading to a significant underdiagnosis of IEM.

引用

页数：7