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Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib
dc.creator | Sarajlija, Adrijan | |
dc.creator | Đorđević, Maja | |
dc.creator | Kecman, Bozica | |
dc.creator | Skakić, Anita | |
dc.creator | Pavlović, Sonja | |
dc.creator | Pasić, Srdjan | |
dc.creator | Stojiljković, Maja | |
dc.date.accessioned | 2022-11-15T15:17:16Z | |
dc.date.available | 2022-11-15T15:17:16Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 1769-7212 | |
dc.identifier.uri | https://imagine.imgge.bg.ac.rs/handle/123456789/1387 | |
dc.description.abstract | Background: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation. Our objective was to explore the frequency and severity of neutropenia and it's complications in relation to genotype of GSD-Ib patients. Methods: We estimated cumulative incidence of neutropenia and severe neutropenia, relation of genotype to absolute neutrophil count (ANC), and dynamics of ANC during serious bacterial infections (SBI) in a cohort of Serbian GSD Ib patients. Impact of genotype on GSD Ib-related inflammatory bowel disease (IBD) was also assessed. Results: Absolute neutrophil count (ANC) lt 1500/mm(3) was present in all 33 patients, with severe neutropenia (ANC lt 500/mm(3)) occurring in 60.6% of patients. The median age at neutropenia onset was 24 months, while severe neutropenia developed at median of 4.5 years. The ANC was elevated during 90.5% episodes of SBI. Genotypes c.81T gt A/c.785G gt A and c.81T gt A/c.1042_1043delCT are associated with earlier onset of neutropenia. Patients carrying c.785G gt A mutation express a higher capacity for ANC increase during SBI. Inflammatory bowel disease was diagnosed in 8 patients (24.2% of total) with median age of onset at 7 years. Risk for IBD occurrence was not significantly affected by gender, genotype and severity of neutropenia. Conclusions: We may conclude that certain mutations in SLC37A4 influence the risk for severe neutropenia occurrence but also affect the capacity to increase ANC during SBI. | en |
dc.publisher | Elsevier, Amsterdam | |
dc.relation | info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS// | |
dc.relation | info:eu-repo/grantAgreement/EC/FP7/316088/EU// | |
dc.rights | restrictedAccess | |
dc.source | European Journal of Medical Genetics | |
dc.subject | Phenotype | en |
dc.subject | Neutropenia | en |
dc.subject | Glycogen storage disease type Ib | en |
dc.subject | Genotype | en |
dc.title | Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib | en |
dc.type | article | |
dc.rights.license | ARR | |
dc.citation.issue | 3 | |
dc.citation.other | 63(3) | |
dc.citation.rank | M23 | |
dc.citation.volume | 63 | |
dc.identifier.doi | 10.1016/j.ejmg.2019.103767 | |
dc.identifier.pmid | 31536830 | |
dc.identifier.scopus | 2-s2.0-85072197353 | |
dc.identifier.wos | 000516852000015 | |
dc.type.version | publishedVersion |
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