极早发型炎症性肠病：糖原贮积病Ia型中的新描述。
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.
作者信息
Hannah William B, Ong Ricardo C, Moreno Margarita Nieto, Pendyal Surekha, Abdelmalak Monica, Kelsen Judith, McGreal Nancy M, Kishnani Priya S
机构信息
Department of Pediatrics, Duke University Medical Center, United States of America.
Department of Pathology, Duke University Medical Center, United States of America.
出版信息
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。
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