New method of molecular and genetic diagnostics of steroid-resistant nephrotic syndrome
https://doi.org/10.1234/XXXX-XXXX-2016-5-38-41
Abstract
The original cause of development of any hereditary disease and steroid-resistant nephrotic syndrome (SRNS) in particular are the nucleotide substitutions leading to pathogenic changes in the encoded proteins. This research is directed to development of optimum algorithm of diagnostics of various hereditary diseases of kidneys united by symptom complex of nephrotic syndrome. On the basis of next generation sequencing and Sanger sequencing technology we examined 45 patients aged from 0 to 6 years old with suspicion on a nephrotic syndrome. Resistance to hormonal therapy was observed at all patients. As a result of research we have found mutations in 35 patients in genes NPHS1, NPHS2, PLCE1, TRPC6, ACTN4, WT1, COL4A3, COL4A4, COL4A5, CD2AP, COQ2, COQ6 and moreover we have revealed 10 new mutations. The obtained data can confirm considerable heterogeneity of SRNS in the Russian Federation.
About the Authors
D. G. Sladkov
Moscow State University
Russian Federation
Russian Federation
K. V. Savost'anov
Scientific Center of Children's Health
Russian Federation
Russian Federation
A. N. Cygin
Scientific Center of Children's Health
Russian Federation
Russian Federation
A. A. Pushkov
Scientific Center of Children's Health
Russian Federation
Russian Federation
I. S. Zhanin
Scientific Center of Children's Health
Russian Federation
Russian Federation
A. G. Nikitin
Scientific Center of Children's Health
Russian Federation
Russian Federation
A. V. Pakhomov
Scientific Center of Children's Health
Russian Federation
Russian Federation
P. V. Anan'in
Scientific Center of Children's Health
Russian Federation
Russian Federation
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Review
For citations:
Sladkov D.G., Savost'anov K.V., Cygin A.N., Pushkov A.A., Zhanin I.S., Nikitin A.G., Pakhomov A.V., Anan'in P.V. New method of molecular and genetic diagnostics of steroid-resistant nephrotic syndrome. Medical Genetics. 2016;15(5):38-41. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-5-38-41
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