TY  - JOUR
AU  - Sarajlija, Adrijan
AU  - Đorđević, Maja
AU  - Kecman, Bozica
AU  - Skakić, Anita
AU  - Pavlović, Sonja
AU  - Pasić, Srdjan
AU  - Stojiljković, Maja
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1387
AB  - 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.
PB  - Elsevier, Amsterdam
T2  - European Journal of Medical Genetics
T1  - Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib
IS  - 3
VL  - 63
DO  - 10.1016/j.ejmg.2019.103767
ER  - 

@article{
author = "Sarajlija, Adrijan and Đorđević, Maja and Kecman, Bozica and Skakić, Anita and Pavlović, Sonja and Pasić, Srdjan and Stojiljković, Maja",
year = "2020",
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.",
publisher = "Elsevier, Amsterdam",
journal = "European Journal of Medical Genetics",
title = "Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib",
number = "3",
volume = "63",
doi = "10.1016/j.ejmg.2019.103767"
}

Sarajlija, A., Đorđević, M., Kecman, B., Skakić, A., Pavlović, S., Pasić, S.,& Stojiljković, M.. (2020). Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. in European Journal of Medical Genetics
Elsevier, Amsterdam., 63(3).
https://doi.org/10.1016/j.ejmg.2019.103767

Sarajlija A, Đorđević M, Kecman B, Skakić A, Pavlović S, Pasić S, Stojiljković M. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. in European Journal of Medical Genetics. 2020;63(3).
doi:10.1016/j.ejmg.2019.103767 .

Sarajlija, Adrijan, Đorđević, Maja, Kecman, Bozica, Skakić, Anita, Pavlović, Sonja, Pasić, Srdjan, Stojiljković, Maja, "Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib" in European Journal of Medical Genetics, 63, no. 3 (2020),
https://doi.org/10.1016/j.ejmg.2019.103767 . .