E.A. Deordieva, R.S. Rostegaev, O.A. Shvets, A.M. Grishutina, A.V. Pavlova, R.Kh. Abasov, E.V. Raikina, V.V. Lebedev, T.V. Asekretova, A.Yu. Shcherbina
Schwachman–Diamond syndrome (SDS) is a rare autosomal recessive disease from the group of ribosomopathies characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, malnutrition, protein-energy malnutrition, growth retardation, skeletal abnormalities and a predisposition to the development of myelodysplastic syndrome (MDS) and acute myeloid leukemia ( AML). Severe hematological disorders, a high risk of developing MDS/AML, with a high percentage of unfavorable outcomes, prompted the consideration of alternative routes for the therapy in these circumstances. The possibility for the use of L-leucine, an essential amino acid, as a pathogenetic therapy in patients with severe dyshematopoiesis in SDS by analogy with its use in another ribosomopathy disease, Diamond–Blackfan anemia, is discussed in the Article.
For citation: E.A. Deordieva, R.S. Rostegaev, O.A. Shvets, A.M. Grishutina, A.V. Pavlova, R.Kh. Abasov, E.V. Raikina, V.V. Lebedev, T.V. Asekretova, A.Yu. Shcherbina. Use of leucine in a patient with Shwachman–Diamond syndrome: a clinical case. Pediatria n.a. G.N. Speransky. 2024; 103 (2): 107-111. – DOI: 10.24110/0031-403X-2024-103-2-107-111