Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome
| Autor: | Silvia Strat, Oana-Larisa Ciobanu-Matei, Pharmacy, Iasi, Romania, Ramona Babici, Ecaterina Vlad, Laura Bozomitu, Alina Costina Luca, Smaranda Diaconescu, Lorenza Donea, Cristina Rusu |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Romanian Journal of Pediatrics, Vol 69, Iss 2, Pp 162-165 (2020) |
| ISSN: | 2069-6175 1454-0398 |
| Popis: | The article discusses a clinical case of late-onset Pompe disease in a 15-year and 6-month-old adolescent hospitalised in a Paediatric Gastroenterology department to investigate persistent liver cytolysis, without response to hepatoprotective therapy. After excluding viral, autoimmune, metabolic and toxic drug aetiologies, a storage disease was suspected and imposed biochemical and genetic tests which confirmed a type II glycogenosis (Pompe disease), both by α-glucosidase (GAA) deficiency, as well as by the identification of two gene mutations on 17q25.2-q25.3 chromosome. |
| Databáze: | OpenAIRE |
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