Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood
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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood : A Spanish cohort. / Gutiérrez-Rivas, E; Bautista, J; Vílchez, J J; Muelas, N; Díaz-Manera, J; Illa, I; Martínez-Arroyo, A; Olivé, M; Sanz, I; Arpa, J; Fernández-Torrón, R; López de Munáin, A; Jiménez, L; Solera, J; Lukacs, Z.
in: NEUROMUSCULAR DISORD, Jahrgang 25, Nr. 7, 07.2015, S. 548-53.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood
T2 - A Spanish cohort
AU - Gutiérrez-Rivas, E
AU - Bautista, J
AU - Vílchez, J J
AU - Muelas, N
AU - Díaz-Manera, J
AU - Illa, I
AU - Martínez-Arroyo, A
AU - Olivé, M
AU - Sanz, I
AU - Arpa, J
AU - Fernández-Torrón, R
AU - López de Munáin, A
AU - Jiménez, L
AU - Solera, J
AU - Lukacs, Z
N1 - Copyright © 2015 Elsevier B.V. All rights reserved.
PY - 2015/7
Y1 - 2015/7
N2 - We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.
AB - We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.
KW - Adolescent
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Creatine Kinase
KW - Delayed Diagnosis
KW - Dried Blood Spot Testing
KW - Female
KW - Genetic Testing
KW - Glycogen Storage Disease Type II
KW - Humans
KW - Male
KW - Metabolic Diseases
KW - Middle Aged
KW - Muscular Dystrophies, Limb-Girdle
KW - Mutation
KW - Prospective Studies
KW - Young Adult
KW - alpha-Glucosidases
KW - Journal Article
KW - Multicenter Study
KW - Observational Study
U2 - 10.1016/j.nmd.2015.04.008
DO - 10.1016/j.nmd.2015.04.008
M3 - SCORING: Journal article
C2 - 25998610
VL - 25
SP - 548
EP - 553
JO - NEUROMUSCULAR DISORD
JF - NEUROMUSCULAR DISORD
SN - 0960-8966
IS - 7
ER -