Bone mineral density in patients with hepatic glycogen storage diseases

• Autor(a) principal: Jacoby, Jesica Tamara
• Data de Publicação: 2021
• Outros Autores: Santos, Bruna Bento dos, Nalin, Tatiéle, Colonetti, Karina, Refosco, Lilia Farret, Souza, Carolina Fischinger Moura de, Spritzer, Poli Mara, Poloni, Soraia, Mendes, Roberta Hack, Schwartz, Ida Vanessa Doederlein
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/232609
• topic: Densidade óssea; Doença de depósito de glicogênio; Osteocalcina; Glycogen storage disease; Bone mineral density; GSD; Bone; Osteocalcin; Photon absorptiometry

The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10.9–20.1) who underwent a dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n = 18), procollagen type 1 N-terminal propeptide (P1NP, n = 19), collagen type 1 C-terminal telopeptide (CTX, n = 18) and 25-OH Vitamin D (n = 23) were also measured. The participants completed a 3-day food diary (n = 20). Low BMD was defined as a Z-score ≤ −2.0. All participants were receiving uncooked cornstarch (median dosage = 6.3 g/kg/day) at inclusion, and 11 (47.8%) presented good metabolic control. Three (13%) patients (GSD Ia = 1, with poor metabolic control; IIIa = 2, both with high CPK levels) had a BMD ≤ −2.0. CTX, OC and P1NP correlated negatively with body weight and age. 25-OH Vitamin D concentration was decreased in seven (30.4%) patients. Our data suggest that patients with hepatic GSDs may have low BMD, especially in the presence of muscular involvement and poor metabolic control. Systematic nutritional monitoring of these patients is essential.