Case Report: Efficacy and safety of SGLT2 inhibitors in patients with Alström syndrome: a follow-up report of two siblings from the same family
Abstract
Background: Ertugliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, is approved for the glycemic management of patients with type 2 diabetes. Alström syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene, leading to ciliary dysfunction and multisystem involvement. AS is characterized by progressive neurosensory decline and metabolic disturbances, with symptoms such as retinal degeneration, which begins in childhood, sensorineural hearing loss, obesity, and cardiomyopathy. The 2020 European Alström Syndrome Clinical Management Guidelines, developed by experts from various medical fields, offer evidence-based recommendations for managing these symptoms and improving the quality of life of affected individuals. Severe insulin resistance, type 2 diabetes, non-alcoholic fatty liver disease, and renal failure significantly affect the quality of life and lifespan of patients with AS.
Objective: To investigate the efficacy and safety of ertugliflozin in improving glycemic control, lipid metabolism, and insulin sensitivity in patients with AS.
Methods: We retrospectively analyzed the clinical data of two sibling with AS treated at the Department of Endocrinology in our hospital. Follow-up data were collected and analyzed to evaluate the efficacy and safety of ertugliflozin in patients with AS.
Results: During an 11-month observation period, ertugliflozin treatment exerted favorable effects on multiple metabolic parameters in the two…
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