Glycogenosis type Ib (GSD1B) causes not only hypoglycemia but also infections and “Crohn's disease like” inflammatory bowel disease (IBD) that can significantly impair patient's quality of life. We retrospectively evaluated infectious and digestive complications in 9 French patients (3 girls, 6 boys) diagnosed at 0.8 years on average, with a mean follow-up of 19.1 years. Infections occurred earlier than IBD, at mean ages of 1.7 and 3.8 years, respectively. The number of acute hospitalizations was 0.7/year due to infectious (0.4/year) or digestive symptoms (0.4/year). Clinical presentations allowed separating patients into mild (n = 5) and severe (n = 4) intestinal involvement. Patients in the severe group had more serious digestive symptoms but also earlier neutropenia (median 0.3 vs. 1.5 years, p =0 .046) with a tendency to a lower neutrophil count (NC) during follow-up, and a higher number of acute hospitalizations (median 1.3/year vs. 0.2/year, p =0 .014) due to digestive symptoms (median 0.6/year vs. 0.05/year, p = 0,012) and infections (median 0.8/year vs. 0.2/year, p =0 .014). Treatments included G-CSF and cotrimoxazole (n = 7), 5-aminosalicylic acid (n = 2), and a polymeric solution enriched in the anti-inflammatory cytokine TGF-β (n = 4, “severe” group), and immunomodulatory treatment (n = 1). In conclusion, infections and IBD are rare but severe complications in GSD1B. Neutropenia tended to be more prevalent in the severe IBD group than in the mild IBD group. Dietetic treatment with specific anti-inflammatory solutions seems particularly appropriate in these patients.

Ib型糖原变性病（GSD1B）不仅会导致低血糖症，还会导致感染和“克罗恩氏病”（如炎症性肠病（IBD）），这些疾病会严重损害患者的生活质量。我们回顾性评估了平均诊断为0.8年，平均随访19.1年的9名法国患者（3名女孩，6名男孩）的感染和消化系统并发症。感染发生在IBD之前，平均年龄分别为1.7岁和3.8岁。由于感染（0.4 /年）或消化系统症状（0.4 /年）而导致的急性住院次数为0.7 /年。临床表现允许将患者分为轻度（n  = 5）和重度（n = 4）肠管受累。重症患者的消化系统症状较重，但中性粒细胞减少症较早（中位0.3 vs. 1.5岁，p  = 0.046），随访期间中性粒细胞计数（NC）降低，急性 因消化系统症状（中位数0.6 /年 vs.0.05 /年，p = 0,012）和感染（中位数0.8 /年vs.0.2 /年，因住院）（中位数1.3 /年vs.0.2 /年，p = 0.014）p = 0.014）。治疗方法包括G-CSF和cotrimoxazole（n  = 7），5-氨基水杨酸（n  = 2）以及富含抗炎细胞因子TGF-β的聚合物溶液（n  = 4，“严重”组）和免疫调节剂治疗（ñ = 1）。总之，在GSD1B中，感染和IBD很少见，但并发症严重。重度IBD组的中性粒细胞减少症倾向于比轻度IBD组的普遍。在这些患者中，用特定的抗炎溶液进行饮食治疗似乎特别合适。