American journal of medical genetics. Part A · 2026
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Costa Mariana Pena, Ferreira Alexandre Rodrigues, Rodrigues Adriana Teixeira, Arantes Rodrigo Rezende, Queiroz Thais Costa Nascentes, de Carvalho Elisa, Porta Gilda, Miura Irene Kazue, Guiotti Maria Tereza Galvão, Monterlei Rafaella Karen Sousa, de Tommaso Adriana Maria Alves, Hessel Gabriel, Bellomo-Brandão Maria Ângela, de Alcantara Roberta Vacari, de Araujo Maria Julia Rodrigues Teixeira, Meneses Daniela Góis, Sawamura Regina, Marques Cibele Dantas Ferreira, Alvarenga Lucas Rocha, Tofoli Marise Helena Cardoso, de Melo Ana Cristina Vieira, de Cerqueira Maia Jussara Melo, Lopes Leticia Helena Caldas, Fagundes Eleonora Druve Tavares
Аннотация
To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (12 IIIa, 1 IIIb), 1 (0.8%) type IV, 6 (4.5%) type VI, and 49 (37.1%) with type IX (28 IXa, 7 IXb, and 14 IXc). Type I patients presented earlier (4 months) and had more episodes of hypoglycemia at clinical presentation (p < 0.001). Anthropometric data at admission revealed impaired growth, with a tendency toward short stature across the groups (median -2.06, -1.89, and -1.96 among type I, III, and IX respectively). The median body mass index (BMI) z-scores at admission for all three types were above +1. Only patients with type IX demonstrated significant improvement in height (p = 0.007) and BMI (p = 0.020) z-scores during follow-up. Regarding laboratory tests, significant decreases were observed in total cholesterol, triglycerides, venous lactate and aminotransferases in patients with types I and IX. Hepatic GSDs are heterogeneous diseases. There is a significant height impairment with a troublesome trend to overweight and obesity, especially in type I. Although there is improvement in aminotransferases, cholesterol, and triglycerides with follow-up, adherence to treatment remains a challenge.