METHODS: Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention.
CONCLUSIONS: Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.
方法:这里我们报道了一个患有SDS的5岁女孩的病例,她在3个月大的时候接受了骨髓移植,在1.8岁的时候出现了自身抗体阳性的1型糖尿病。糖尿病的表现和病程均为轻度,即使在抗糖尿病治疗开始之前,也会并发自发性低血糖发作。目前,饮食干预可以实现足够的代谢控制。
结论:考虑到SBDS蛋白调节有丝分裂和核糖体生物合成,其抑制可能导致免疫不稳定和慢性炎症,该病例提供了对罕见的Shwachman-Diamond综合征相关糖尿病表型的见解,其特征可能是临床过程中显著的年龄依赖性差异。