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@article{1545500,
author = {David, Jan and Chrastina, Petr and Pešková, Karolína and Kožich, Viktor and Friedecký, David and Adam, Tomáš and Hlídková, Eva and Vinohradská, Hana and Novotná, Dana and Hedelová, Monika and Al Taji, Eva and Holubová, Andrea and Skalická, Veronika and Macek, Milan and Gaillyová, Renata and Votava, Felix},
article_location = {Praha},
article_number = {2},
doi = {http://dx.doi.org/10.21101/cejph.a5441},
keywords = {rare disease; newborn screening; Czech Republic; public health; epidemiology; prevention},
language = {eng},
issn = {1210-7778},
journal = {Central European journal of public health},
title = {EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC},
url = {http://dx.doi.org/10.21101/cejph.a5441},
volume = {27},
year = {2019}
}
TY - JOUR
ID - 1545500
AU - David, Jan - Chrastina, Petr - Pešková, Karolína - Kožich, Viktor - Friedecký, David - Adam, Tomáš - Hlídková, Eva - Vinohradská, Hana - Novotná, Dana - Hedelová, Monika - Al Taji, Eva - Holubová, Andrea - Skalická, Veronika - Macek, Milan - Gaillyová, Renata - Votava, Felix
PY - 2019
TI - EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC
JF - Central European journal of public health
VL - 27
IS - 2
SP - 153-159
EP - 153-159
PB - Česká lékařská společnost J.E. Purkyně
SN - 12107778
KW - rare disease
KW - newborn screening
KW - Czech Republic
KW - public health
KW - epidemiology
KW - prevention
UR - http://dx.doi.org/10.21101/cejph.a5441
L2 - http://dx.doi.org/10.21101/cejph.a5441
N2 - Objectives: Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1: 2,000, is the task of newborn screening (NBS). In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PK U/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), very long chain acyl-CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl transferase I and II deficiency (CPTID, CPTIID), carnitine-acylcarnitine translocase deficiency (CACTD), maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleryl-CoAdehydrogenase deficiency (IVA), argininemia (ARG), citrullinemia (CIT), biotinidase deficiency (BTD), cystathionine beta-synthase-deficient homocystinuria (CBSD HCU), and methylenetetrahydrofolate reductase deficiency homocystinuria (MTHFRD HCU). The aim was to analyze the prevalence of RD screened by NBS in CZ. Methods: We examined the NBS programme in CZ from 1 January 2010 to 31 December 2017, which covered 888,891 neonates. Dried blood spots were primarily analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. Results: The overall prevalence of RD among the neonate cohort was 1: 1,043. Individually, 1:2,877 for CH, 1:5,521 for PKU/HPA, 1 :6,536 for CF (1:5,887 including false negative patients), 1:12,520 for CAH, 1:22,222 for MCADD, 1:80,808 for LCHADD, 1:177,778 for GA I, 1 : 177,778 for IVA, 1:222,223 for VLCADD, 1:296,297 for MSUD, 1:8,638 for BTD, and 1:181,396 for CBSD HCU. Conclusions: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool.
ER -
DAVID, Jan, Petr CHRASTINA, Karolína PEŠKOVÁ, Viktor KOŽICH, David FRIEDECKÝ, Tomáš ADAM, Eva HLÍDKOVÁ, Hana VINOHRADSKÁ, Dana NOVOTNÁ, Monika HEDELOVÁ, Eva AL TAJI, Andrea HOLUBOVÁ, Veronika SKALICKÁ, Milan MACEK, Renata GAILLYOVÁ and Felix VOTAVA. EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC. \textit{Central European journal of public health}. Praha: Česká lékařská společnost J.E. Purkyně, 2019, vol.~27, No~2, p.~153-159. ISSN~1210-7778. Available from: https://dx.doi.org/10.21101/cejph.a5441.
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