Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
Magdalena Kaczor
1
,
Dorota Wesół-Kucharska
1
,
Milena Greczan
1
,
Karolina Kierus
2
,
Łukasz Kałużny
3
,
Monika Duś-Żuchowska
3
,
Ewa Ehmke vel Emczyńska-Seliga
1
,
Elżbieta Ciara
4
,
Janusz Książyk
1
,
Dariusz Rokicki
1
Department of Pediatrics, Nutrition and Metabolic Disorders, Children’s Memorial Health Institute, Warsaw, Poland
Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok Children’s Clinical Hospital of l. Zamenhof, Bialystok, Poland
Department of Pediatric Gastroenterology and Metabolic Disorders, Pediatric Institute, Poznan University of Medical Sciences, Poznan, Poland
Department of Molecular Genetics, Children’s Memorial Health Institute, Warsaw, Poland
Kaczor M, Wesół-Kucharska D, Greczan M, et al. Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatric Endocrinology Diabetes and Metabolism. 2022;28(3):207-212. doi:10.5114/pedm.2022.116115.
APA
Kaczor, M., Wesół-Kucharska, D., Greczan, M., Kierus, K., Kałużny, Ł., & Duś-Żuchowska, M. et al. (2022). Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatric Endocrinology Diabetes and Metabolism, 28(3), 207-212. https://doi.org/10.5114/pedm.2022.116115
Chicago
Kaczor, Magdalena, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, and Ewa Ehmke vel Emczyńska-Seliga et al. 2022. "Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland". Pediatric Endocrinology Diabetes and Metabolism 28 (3): 207-212. doi:10.5114/pedm.2022.116115.
Harvard
Kaczor, M., Wesół-Kucharska, D., Greczan, M., Kierus, K., Kałużny, Ł., Duś-Żuchowska, M., Ehmke vel Emczyńska-Seliga, E., Ciara, E., Książyk, J., and Rokicki, D. (2022). Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatric Endocrinology Diabetes and Metabolism, 28(3), pp.207-212. https://doi.org/10.5114/pedm.2022.116115
MLA
Kaczor, Magdalena et al. "Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland." Pediatric Endocrinology Diabetes and Metabolism, vol. 28, no. 3, 2022, pp. 207-212. doi:10.5114/pedm.2022.116115.
Vancouver
Kaczor M, Wesół-Kucharska D, Greczan M, Kierus K, Kałużny Ł, Duś-Żuchowska M et al. Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatric Endocrinology Diabetes and Metabolism. 2022;28(3):207-212. doi:10.5114/pedm.2022.116115.
Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD 1b have hypoglycemia episodes, lactate acidosis, hypertriglyceridemia, hypercholesterolemia, hyperuricemia, neutropenia and in imaging studies hepatomegaly and/or nephromegaly.
The primary goals of treatment are to maintain proper blood glucose levels and to increase the number of properly functioning neutrophils.
The aim of the study was a retrospective analysis of the clinical picture and treatment results of pediatric patients with type 1b glycogen storage disease from Poland.
The study included 13 patients from 3 clinical centers, with a median age at diagnosis as 5 months. In 11/13 patients, the diagnosis was confirmed by molecular test, by the presence of pathogenic variants on both alleles of the SLC37A4 gene. Ten out of 13 patients developed the first symptoms in the form of severe infection (sepsis and/or pneumonia) already in the neonatal-infant period. A hypoglycemia episode was observed before diagnosis in 8/13 patients, of which 4/8 patients presented symptoms in the form of generalized relaxation and/or seizures. Two patients developed hypertension, and 4/13 required long-term treatment of inflammatory bowel disease.
