Orphan diseases: medical care in a specialized pediatric clinic
Abstract
The effectiveness of medical care for children with rare hereditary diseases in a specialized genetic clinic was analyzed. About half of the hospitalized patients (and their relatives) needed genetic research to establish or confirm the diagnosis, clarify the form of the disease, and provide medical and genetic counseling. About 20% of the examined children required additional genetic testing or repeated bioinformatic interpretation of the data.
About the Authors
E. A. Nikolaeva
Academician Y.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
M. N. Kharabadze
Academician Y.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
S. V. Bochenkov
Academician Y.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Review
For citations:
Nikolaeva E.A., Kharabadze M.N., Bochenkov S.V. Orphan diseases: medical care in a specialized pediatric clinic. Medical Genetics. 2020;19(8):6-8. (In Russ.)
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