Significance of clinical and laboratory manifestations in the diagnosis of Shwachman–Diamond syndrome in children

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder caused by pathogenic variants in the SBDS gene and characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, growth delay, and skeletal abnormalities. Objective. To optimize the diagnostic criteria of SDS in children based on a comprehensive examination of patients with clinical and laboratory manifestations of this syndrome. Patients and methods. The study included 88 patients with SDS. Medical records, clinical conditions, results of laboratory and instrumental examinations were evaluated. All patients underwent molecular genetic testing for pathogenic variants in the SBDS gene. Results. Patients with a genetically confirmed diagnosis of SDS (n = 74) were characterized by recurrent infections (p < 0.001), dental pathology (p < 0.001), leukopenia (p < 0.001), neutropenia (p < 0.002), anemia (p = 0.008), thrombocytopenia (p = 0.030), decreased levels of total amylase (p < 0.001), pancreatic amylase (p < 0,001), lipase (p < 0.001), fecal elastase-1 (p < 0.001) and immunoglobulin M (p < 0.001), elevated transaminases with predominant alanine aminotransferase (p < 0.001), and the presence of pancreatic lipomatosis (p < 0.001) according to ultrasound findings. Conclusion. The results of this study can be used as clinical and laboratory criteria for the diagnosis of SDS in pediatric practice and referral for molecular genetic testing to verify the diagnosis. Key words: Shwachman–Diamond syndrome, SBDS gene, children, physical development, protein-energy undernutrition