Correction of nutrient deficiencies in children with Shwachman–Diamond syndrome

Shwachman–Diamond syndrome (SDS) is a rare genetic ribosomopathy caused by impaired hematopoiesis, exocrine pancreatic insufficiency, delayed puberty, and skeletal abnormalities. Objective. To evaluate the efficacy of correcting nutrient deficiencies in children with SDS using specialized therapeutic formulas and enzyme replacement therapy (ERT). Patients and methods. The study included 69 patients with a diagnosis of SDS confirmed by genetic testing. During the first hospitalization and one year after the start of treatment with specialized therapeutic formulas and ERT, anthropometric data of patients were evaluated using the WHO Anthro and WHO Anthro Plus programs. Laboratory markers of nutritional status included total protein, albumin, urea, creatinine, cholesterol, high-density lipoproteins, low-density lipoproteins, triglycerides, glucose, iron, calcium, phosphorus, and vitamin D in blood serum. Food specific IgE antibodies, IgA and IgG to gliadin and tissue transglutaminase were examined. Fecal elastase-1 levels were determined to assess the exocrine pancreatic function. According to the results of examination, correction of diet therapy with selection of specialized therapeutic formulas was performed considering the age, basal metabolic rate and concomitant pathology. ERT with pancreatin minimicrospheres was prescribed. Results. In patients with SDS during their first hospitalization, the height Z-score (median, 1st and 3rd quartiles (Me [Q1; Q3])) was -1.60 [-2.4; -0.8], the weight Z-score was -1.5 [-2.2; -0.7], and the body mass index (BMI) Z-score was -0.8 [-1.5; 0.2]. IgE-mediated food allergy was laboratory confirmed in 43 (62.3%) children, and non-celiac gluten sensitivity was detected in 35 (50.7%) children. Celiac disease was diagnosed in 1 child, as was diabetes. Exocrine pancreatic insufficiency was revealed in 98.7% of patients as decreased fecal elastase-1 levels (24 [15; 53.5] μg/g). All children were prescribed individually selected diet therapy and therapeutic formulas (Alfare, Peptamen), ERT with pancreatin minimicrospheres. Comprehensive treatment for 1 year showed a statistically significant improvement in weight/height and laboratory parameters in children with SDS. Conclusion. Children with SDS require nutritional support that includes individually selected diet therapy considering food allergies/intolerances, supplemental therapeutic formulas, and pancreatin minimicrospheres in an adequate dose. Key words: Shwachman–Diamond syndrome, children, physical development, protein-energy undernutrition, diet therapy, therapeutic formulas, pancreatin