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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
3/2022
vol. 28
 
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Artykuł oryginalny

Charakterystyka kliniczna i długoterminowe wyniki pacjentów z glikogenozą typu 1b: retrospektywne doświadczenie wieloośrodkowe w Polsce

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

  1. Department of Pediatrics, Nutrition and Metabolic Disorders, Children’s Memorial Health Institute, Warsaw, Poland
  2. Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok Children’s Clinical Hospital of l. Zamenhof, Bialystok, Poland
  3. Department of Pediatric Gastroenterology and Metabolic Disorders, Pediatric Institute, Poznan University of Medical Sciences, Poznan, Poland
  4. Department of Molecular Genetics, Children’s Memorial Health Institute, Warsaw, Poland
Pediatr Endocrinol Diabetes Metab 2022; 28 (3): 207–212
Data publikacji online: 2022/05/12
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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.

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