Neurofibromatosis type I: etiopathogenesis, clinic, diagnosis, treatment
https://doi.org/10.25789/YMJ.2018.61.21
Abstract
The relevance of the presented review is due to the high frequency of neurofibromatosis type 1 (NF1) in the population and frequent association with the development of malignant neoplasms. It is mainly characterized by a number of macules, the color of «cafe´-au-lait «, freckles in the skin folds, Lisch nodules and neurofibromas. Because clinical manifestations depend on the patient’s age, and there are a number of other overlapping syndromes and diseases, it is usually difficult to put an early clinical diagnosis. At present, there are many molecular methods for diagnosing NF1, the highest sensitivity of any of these methods is ~ 95%.
This article examines the causes, pathogenetic mechanisms of the development of the disease, its complications, molecular genetic methods of investigation.
About the Authors
L. M. Neustroeva
ЯНЦ КМП
Russian Federation
Russian Federation
Neustroeva Lena Mikhaylovna– Junior researcher of the laboratory of the Laboratory of Population Genetics
Tel.: 8 (914) 825 26 01.
N. I. Pavlova
ЯНЦ КМП
Russian Federation
Russian Federation
Pavlova Nadezhda Ivanovna – PhD, temporary acting chief scientific officer - head of the laboratory of heritable pathology
Tel.: +7 (914) 289 39 36
N. A. Solovyeva
ЯНЦ КМП
Russian Federation
Russian Federation
Solov’eva Natal’ya Alekseevna – PhD, temporary acting chief scientific officer - head of the Laboratory of Population Genetics
Tel.: 8 (924) 171 34 89
A. T. Diakonova
ЯНЦ КМП
Russian Federation
Russian Federation
D’yakonova Aleksandra Timofeevna – Junior researcher of the laboratory of heritable pathology
Tel.: 8 (914) 238 68 93
M. A. Varlamova
ЯНЦ КМП
Russian Federation
Russian Federation
Varlamova Marina Alekseevna – Junior researcher of the laboratory of heritable pathology
Tel.: 8 (914) 298 87 60
N. P. Filippova
ЯНЦ КМП
Russian Federation
Russian Federation
Filippova Natal’ya Pavlovna – PhD, associate professor, senior researcher of the Laboratory of Population Genetics
Tel.: 8 (914) 303 43 95
V. V. Dodokhov
ЯНЦ КМП
Russian Federation
Russian Federation
Dodokhov Vladimir Vladimirovich – PhD, researcher of the Laboratory of Population Genetics
Tel.: 8 (964) 422 02 78
H. A. Kurtanov
ЯНЦ КМП
Russian Federation
Russian Federation
Kurtanov Khariton Alekseevich – PhD, Chief Scientific Officer - Head of the Department of Molecular Genetics.
Tel.: +7 (914) 106 00 30
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Review
For citations:
Neustroeva L.M., Pavlova N.I., Solovyeva N.A., Diakonova A.T., Varlamova M.A., Filippova N.P., Dodokhov V.V., Kurtanov H.A. Neurofibromatosis type I: etiopathogenesis, clinic, diagnosis, treatment. Yakut Medical Journal. 2018;(1):69-72. https://doi.org/10.25789/YMJ.2018.61.21
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