The first results of tuberous sclerosis registry
Abstract
The purpose of establishing and maintaining a tuberous sclerosis registry is to collect data on the clinical manifestations and outcomes of the disease, and drug and non-drug interventions. The registry includes data on 303 people (156 men and 147 women) aged 4 months to 28 years who are diagnosed as having this disease. Most patients are the residents of Moscow and its Region (102/303; 33,6%). Thirty (9,9%) of the 303 patients are registered to have a family history of tuberous sclerosis. TSC1 and TSC2 gene mutations are detected in 29 (38,6%) and 46 (61,4%) patients, respectively. The TSC2 gene mutations previously undescribed in the world literature are found in 10 patients. There is epilepsy in 86,8% (263/303), intellectual developmental disorders in 39,3% (119/303), subependymal giant cell astrocytomas in 16,2% (49/303), tubers in 61% (81/131), subependymal nodules in 65,7% (86/131), hypopigmentation spots in 66,3% (201/303), facial angtofibromas in 29,4% (89/303), cardiac rhabdomyomas in 44,2% (134/303), and renal angiomyolipomas in 41,6% (126/303). West's syndrome is noted in 68 (25,9%) of the 262 epileptic patients; symptomatic focal epilepsy is seen in 149 (56,9%) patients. Seven patients took everolimus for subependymal giant cell astrocytomas. The registry demonstrates the late diagnosis of tuberous sclerosis, the limitation of genetic testing, and physicians' inadequate attention to the psychiatric manifestations of the disease.
About the Authors
M. Yu. Dorofeeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
E. D. Belousova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
A. M. Pivovarova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
B. A. Kobrinsky
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
M. A. Podolnaya
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
L. I. Shagam
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
A. V. Polyakova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
E. N. Imyanitov
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
E. Yu. Zakharova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg; Research Center of Medical Genetics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Dorofeeva M.Yu., Belousova E.D., Pivovarova A.M., Kobrinsky B.A., Podolnaya M.A., Shagam L.I., Polyakova A.V., Imyanitov E.N., Zakharova E.Yu. The first results of tuberous sclerosis registry. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):113-120. (In Russ.)
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