Preview

Pacific Medical Journal

Advanced search

Difficulties in the diagnosis of Shwachman–Diamond syndrome

https://doi.org/10.34215/1609-1175-2019-4-98-100

Abstract

Summary: A case of Shwachman–Diamond syndrome with typicl symptoms of this disease (bone, intestinal, hematological) diagnosed in at an early age is described. Authors believe that the mainstreaming of discipline on orphan diseases with interdisciplinary diagnostic and medical approaches in training programs including post-graduate training is a compelling need to train a modern professional in the field of pediatrics.

About the Authors

N. N. Martinovich
Irkutsk State Medical University
Russian Federation

Natalya N. Martinovich, MD, PhD, professor, head of the Department of Pediatrics

1 Krasnogo Vosstaniya St., Irkutsk, 6640036



Yu. P. Semschikova
Irkutsk State Medical University
Russian Federation
Irkutsk


V. M. Shinkareva
Irkutsk State Regional Children's Clinical Hospital
Russian Federation
Irkutsk


L. V. Holmogorova
Irkutsk State Regional Children's Clinical Hospital
Russian Federation
Irkutsk


T. V. Barzunova
Irkutsk State Medical University
Russian Federation
Irkutsk


References

1. Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr. 1964;53:282–93.

2. Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65(5):645–63.

3. Martynovich NN, Barzunova TV, Syemschikova YuP. Integrated training at the Department of Pediatrics No. 1 in teaching academic discipline on the choice of orphan diseases. Actual issues of health care and health development at the level of the subject of the Russian Federation: materials of the All-Russian scientific and practical conference. Irkutsk: ISTC; 2018;2:150–3 (In Russ.).

4. Boocock GR, Morrison JA, Popovic M, N. Mutations in SBDS are associated with Shwachman–Diamond syndrome. Nat Genet. 2003;33:97–101.

5. Goobie S., M. Popovic, Morrison J. Shwachman–Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68:1048–54.

6. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr. 1999; 135:81–8.


Review

For citations:


Martinovich N.N., Semschikova Yu.P., Shinkareva V.M., Holmogorova L.V., Barzunova T.V. Difficulties in the diagnosis of Shwachman–Diamond syndrome. Pacific Medical Journal. 2019;(4):98-100. (In Russ.) https://doi.org/10.34215/1609-1175-2019-4-98-100

Views: 631


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


ISSN 1609-1175 (Print)