Preview

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

Advanced search

Shwachman–Diamond Syndrome

https://doi.org/10.21508/1027-4065-2021-66-5-223-226

Abstract

This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

About the Authors

D. R. Sabirova
Kazan State Medical University
Russian Federation

Kazan



A. R. Shakirova
Children’s Republican Clinical Hospital
Russian Federation

Kazan



I. I. Ramazanova
Children’s Republican Clinical Hospital
Russian Federation

Kazan



N. V. Shakurova
Kazan State Medical University
Russian Federation

Kazan



References

1. Dror Y., Donadieu J., Koglmeier J. Draft consensus guidelines for diagnosis and treatment of Shwachman–Diamond syndrome. Ann N Y Acad Sci 2011; 1242: 40–55. DOI: 10.1111/j.1749-6632.2011.06349.x

2. Goobie S., Popovic M., Morrison J. Shwachman–Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromericregion of chromosome 7. Am J Hum Genet 2001; 68: 1048–1054. DOI: 10.1086/319505

3. De Oliveira J.F., Sforoa M.L., Blumenschein T.M.A. Structure, Dynamics, and RNA Interaction Analysis of the Human SBDS Protein. J Mol Biol 2009; 396: 1053–1069. DOI: 10.1016/J.JMB.2009.12.039

4. Shwachman H., Diamond L.K., Oski F.A., Khaw K.T. The Syndrome of Pancreatic Insufficiency and Bone Marrow Dysfunction. J Pediatr 1964; 65(5): 645–663. DOI: 10.1016/s0022-3476(64)80150-5

5. Nezelof C., Watchi M. Lipomatous congenital hypoplasia of the exocrine pancreas in children (2 cases and review of the literature). Arch Fr Pediatr 1961; 18: 1135–1172

6. Cipolli M., D’Orazio C., Delmarco A. Shwachman’s syndrome: pathomorphosis and long-term outcome. J Pediatr Gastroenterol Nutr 1999; 29: 265–272

7. Lesesve J.F., Dugue F., Gregoire M.J. Shwachman–Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. Eur J Haematol 2003; 71: 393–5

8. Woods W.G., Krivit W., Lubin B.H. Aplastic anemia associated with the Shwachman syndrome: in vivo and in vitro observations. Am J Pediatr Hematol Oncol 1981; 3: 347–51

9. Borowitz D., Robinson K.A., Rosenfeld M. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 2009; 155: S73– S93. DOI: 10.1016/j/jpeds.2009.09.001

10. BarÕú Z., Özoay F., Olcay L., Ceylaner S., Sezer T. A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia. J Pediatr Genet 2018; 7(3): 117–121. DOI: 10.1055/s-0038-1636997

11. Myers K.C., Davies S.M., Shimamura A. Clinical and molecular pathophysiology of Shwachman–Diamond syndrome: an update. Hematol Oncol Clin North Am 2013; 27(1): 117–28. DOI: 10.1016/j.hoc.2012.10.003

12. Ipatova M.G., Kutsev S.I., Shumilov P.V., Mukhina Yu.G., Finogenova N.A., Polyakova S.I. et al. Brief guidelines for the management of patients with Shwachman– Diamond syndrome. Pediatriya. Zhurnal im. G.N. Speranskogo 2016; 95(6):181–186. (in Russ.)


Review

For citations:


Sabirova D.R., Shakirova A.R., Ramazanova I.I., Shakurova N.V. Shwachman–Diamond Syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(5):223-226. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-5-223-226

Views: 685


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)