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
References
1. Дорофеева М.Ю., Белоусова Е.Д., Пивоварова A.M. Клинические рекомендации по диагностике и лечению туберозного склероза у детей. Детская неврология. Клинические рекомендации. Выпуск 1. Под ред. В.И. Гузевой. Ст-Петербург2014; 194—228. (Dorofeeva M.Yu., Belousova E.D., Pivovarova A.M. Clinical Recomendations for Diagnosis and Treatment of Tuberous Sclerosis Complex. Pediatric Neurology. Clinical Recomendations. V.I.Guzeva (ed). St-Peterburg 2014; 194-228.)
2. Northrup H., Krueger D.A., on behalf of the International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PediatNeurol 2013; 49: 243—254.
3. Krueger D.A., Northrup H., Roberds S. et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PediatNeurol 2013; 49: 255-265.
4. Kingswood J.C., Bruzzi P., Curatolo P. et al. TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Or-phanet J Rare Dis 2014; 9: 182.
5. Кобринский Б.А., Новиков П.В., Белоусова Е.Д. и др. Специализированные регистры для мониторинга и эффективности новых лекарственных препаратов в постоянном лечении больных с редкими заболеваниями. Врач и информационные технологии 2014; 3: 13—21. (Kobrin-skij B.A., Novikov P.V., Belousova E.D. et al. Specialized registers for monitoring the effectiveness of new drugs in continuous treatment of patients with rare diseases. Vrach i infor-matsionnyetekhnologii2014; 3: 13—21.)
6. SancakO., Nellist M., Goedbloed M. et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 2005; 13: 6: 731-741.
7. Curatolo P., Jozwiak S., Nabbout R. On behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J PediatNeurol2012; 16: 582-586.
8. Curatolo P., Moavero R., de Vries P.J. Neurological and neu-ropsychiatric aspects of tuberous sclerosis complex. Lancet Neural 2015; 14: 733-745.
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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