Department of Endocrinology, Arabkir Medical Center, Yerevan State Medical University, Yerevan, Armenia.
Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Ital J Pediatr. 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z.
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes.
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.
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.
Shwachman-Diamond 综合征（SDS）是一种由 SBDS 基因突变引起的罕见先天性疾病，其特征为外分泌胰腺功能不全、血液功能障碍和骨骼生长衰竭。尽管 SDS 常见的伴发躯体疾病的血液学特征和特征已广为人知，但来自病例报告和患者登记处的新数据表明，SDS 也可能与糖尿病风险增加有关。然而，目前关于 SDS 相关糖尿病的数据有限，无法就患病率和发病率、临床病程和结局得出结论。
这里我们报告了一例 5 岁女孩的病例，她在 3 个月大时接受了骨髓移植，并在 1.8 岁时发展为自身抗体阳性 1 型糖尿病。糖尿病的表现和发病过程较为轻微，并发有自发性低血糖发作，甚至在开始抗糖尿病治疗之前就已出现。目前，通过饮食干预可以实现充分的代谢控制。
鉴于 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，因此该病例为罕见的 Shwachman-Diamond 综合征相关糖尿病的表型提供了新的认识，其临床病程可能具有显著的年龄依赖性差异。
