Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a rare symptom in young SDS patients. However, currently available data on SDS-associated diabetes and hypoglycaemia is limited and does not allow conclusions neither about prevalence and incidence rates, nor about clinical course and outcomes. In the current work we report a case of a 5-year old girl with SDS, who underwent bone marrow transplantation at the age of 3 months, and developed a combination of recurrent severe non-symptomatic hypoglycaemias starting at the age of 1 year and autoantibody-positive type 1 diabetes mellitus, diagnosed at the age of 1.8 years. Manifestation and course of diabetes development was complicated by concurrent spontaneous episodes of hypoglycaemia of unclear etiology. Mild hyperglycaemia allowed for postponing initiation of insulin therapy and an initial treatment trial with glibenclamide, which did not lead to any improvement of glycaemia. Six months after diabetes manifestation, good metabolic control is maintained by dietary intervention with a special high-fibre formula feeding only, under which hypoglycaemia also no longer occurred (time in range before and after dietary intervention were 62 and 81%, respectively). Taking into account that SBDS protein regulates mitosis and ribosomal biosynthesis, and its suppression can cause immunological instability and chronic inflammation, the current case provides valuable insight into the early clinical course of rare, Shwachman-Diamond syndrome associated dysglycaemia development.
15 Sep 2022 - 17 Sep 2022