Hannah William B, Ong Ricardo C, Moreno Margarita Nieto, Pendyal Surekha, Abdelmalak Monica, Kelsen Judith, McGreal Nancy M, Kishnani Priya S
Department of Pediatrics, Duke University Medical Center, United States of America.
Department of Pathology, Duke University Medical Center, United States of America.
Mol Genet Metab Rep. 2022 Feb 15;31:100848. doi: 10.1016/j.ymgmr.2022.100848. eCollection 2022 Jun.
Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.
尽管炎症性肠病是Ib型糖原贮积病的一个已被充分描述的特征,但仅在少数Ia型糖原贮积病(GSDIa)患者中报告过。据我们所知,我们描述了首例患有GSDIa且患有极早发型炎症性肠病(VEO-IBD)的患者。需要开展更大规模的研究,以更好地理解这种可能的关联,阐明GSDIa中VEO-IBD的发病机制,并为治疗提供依据。