A clinical follow-up of a 5-year old child with SOPH-syndrome
https://doi.org/10.25789/YMJ.2021.76.29
Abstract
The article describes a clinical example of the rare hereditary disease SARS-syndrome in a Sakha child. The observation of the child with this disease, features of diagnosis and management of the patient are described.
About the Authors
O. N. Ivanova
Medical institute of the North-Eastern federal university
Russian Federation
Russian Federation
Ivanova Olga Nikolaevna – MD, professor of the department of pediatrics and pediatric surgery
A. L. Sukhomyasova
Republican hospital #1 National health center of the Republic of Sakha (Yakutia)
Russian Federation
Russian Federation
Sukhomyasova Aitalina Lukinichna – PhD, main out-of-staff geneticist of the Republic of Sakha (Yakutia), a head of the medical and genetic center
E. E. Gurinova
Republican hospital #1 National health center of the Republic of Sakha (Yakutia)
Russian Federation
Russian Federation
Gurinova Elizaveta Egorovna – a geneticist of the medical and genetic center
R. N. Ivanova
Republican hospital #1 National health center of the Republic of Sakha (Yakutia)
Russian Federation
Russian Federation
Ivanova Rosa Nikolaevna – a geneticist of the medical and genetic center
O. A. Golikova
Republican hospital #1 National health center of the Republic of Sakha (Yakutia)
Russian Federation
Russian Federation
Golikova Oksana Afanasievna – PhD, a head of the pediatric consultative department
I. S. Ivanova
Medical institute of the North-Eastern federal university
Russian Federation
Russian Federation
Ivanova Irina Semyonovna – a 1st year-student
T. E. Burtseva
Medical institute of the North-Eastern federal university; Yakutsk science center of complex medical problems
Russian Federation
Russian Federation
Burtseva Tatiana Yegorovna – MD, professor of the department of pediatrics and pediatric surgery; a head of the laboratory
M. P. Slobodchikova
St. Petersburg state pediatric medical university
Russian Federation
Russian Federation
Slobodchikova Maya Pavlovna – a senior lecturer of the Department of foreign languages with the courses of Russian and Latin languages
References
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2. Genetic testing for Hereditary disease with an autosomal recessive type of inheritance in the Republic of Sakha (Yakutia)/ A.N. Nogovitsyn, A.L. Sukhomazova, N.R. Maksimova [et al.] // Yakut medical journal. 2014. - No. 2 (46). - P. 40-44.
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4. Population frequency and age of mutation g5741 = a in the gene n bass, which is the cause of SOPH syndrome in the Republic of Sakha (Yakutia) / N.R. Maksimova, A.N. Nogovitsyna, H.A. Kurtanov [et al.] // Genetics. 2016. Vol. 52. No. 10. P. 1194-1201.
5. Puzyrev V.P. Hereditary diseases in Yakuts/ V.P. Puzyrev, N.R. Maksimova // Genetics. - 2008. - Vol.44, № 10. - P.1317-1324.
Review
For citations:
Ivanova O.N., Sukhomyasova A.L., Gurinova E.E., Ivanova R.N., Golikova O.A., Ivanova I.S., Burtseva T.E., Slobodchikova M.P. A clinical follow-up of a 5-year old child with SOPH-syndrome. Yakut Medical Journal. 2021;(4):119-121. https://doi.org/10.25789/YMJ.2021.76.29
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