From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy

Ewa Grzywna; Jarosław Kwiecień

doi:10.5114/polp.2021.109310

eISSN: 2300-8660
ISSN: 0031-3939

Pediatria Polska - Polish Journal of Paediatrics

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3/2021
vol. 96

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abstract:

Case report

From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy

Ewa Grzywna

¹

,

Jarosław Kwiecień

¹

Chair and Department of Paediatrics in Zabrze, Medical University of Silesia in Katowice, Poland

Pediatr Pol 2021; 96 (3): 220–222

DOI: https://doi.org/10.5114/polp.2021.109310

Online publish date: 2021/09/29

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The paper presents the case of a 12-year-old boy hospitalised due to persistent hypertransaminasemia of unknown origin, in whom rare metabolic disease – Pompe disease, was finally diagnosed. We discuss the possible symptoms and the diagnostic criteria for Pompe disease, as well as modern genetic methods of diagnosing. The importance of including this metabolic disease in differential diagnosis of hypertransaminasemia was underlined. The recombinant human α-glucosidase as the enzyme replacement therapy makes nowadays the early diagnosis of Pompe disease especially important.

keywords:

From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy

Ewa Grzywna 1 , Jarosław Kwiecień 1

metabolic disorders, Pompe disease, hypertransaminasemia

Ewa Grzywna

¹

,

Jarosław Kwiecień

¹