{"id":13154,"date":"2024-08-23T04:20:26","date_gmt":"2024-08-23T02:20:26","guid":{"rendered":"https:\/\/valintermed.com\/?p=13154"},"modified":"2024-09-21T17:08:10","modified_gmt":"2024-09-21T15:08:10","slug":"kompleks-tuberoznogo-skleroza","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/","title":{"rendered":"Tuberous sclerosis - Bourneville disease"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Tuberous sclerosis, or Bourneville disease, is a rare genetic disorder characterized by the development of benign tumors (hamartomas) in various organs, including the brain, kidneys, heart, lungs, and skin. The disease is associated with mutations in the TSC1 and TSC2 genes, which encode proteins that regulate cell growth and differentiation. Disruption of these genes leads to uncontrolled cell growth and the formation of hamartomas, which can cause serious clinical manifestations such as seizures, mental retardation, autism, developmental delay, and organ damage. Tuberous sclerosis is a multisystem disorder that can manifest differently in different patients, ranging from mild forms to severe complications.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/complexes-of-tuberous-sclerosis\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Tuberous sclerosis was first described in 1880 by the French neurologist D\u00e9sir\u00e9-Magloire Bourneville, who noted the combination of epilepsy, skin lesions and mental retardation in his patients. Later, in the early 20th century, pathologists discovered that the disease was associated with the formation of tubers (thickenings) in the cerebral cortex, which gave the disease its name. The discovery of the TSC1 and TSC2 genes in the 1990s led to important advances in understanding the molecular mechanisms of the disease and the development of targeted therapies, such as mTOR inhibitors, which have significantly improved the prognosis for patients with the disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Tuberous sclerosis occurs with a frequency of 1 in 6,000\u201310,000 live births, making it a relatively rare disease. The disease occurs in both sexes with equal frequency and does not depend on ethnicity. Most cases (about 70%) are associated with new spontaneous mutations in the TSC1 or TSC2 genes, and only 30% are inherited in an autosomal dominant manner. Due to improved diagnostics and increased life expectancy of patients, the incidence of the disease is gradually increasing.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Tuberous sclerosis is caused by mutations in the TSC1 genes (chromosome 9) and TSC2 (chromosome 16), which encode the proteins hamartin and tuberin, respectively. These proteins play a key role in inhibiting cell growth by regulating the mTOR pathway. Hamartin and tuberin normally interact to suppress mTOR activity, which limits cell proliferation. Mutations in these genes disrupt this process, leading to uncontrolled cell growth and the formation of hamartomas. An important feature of the disease is the possibility of mosaicism - when the mutation is present only in some cells of the body, which can lead to a variable clinical picture.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The main risk factor for developing tuberous sclerosis is the presence of a mutation in one of the TSC1 or TSC2 genes. The risk is higher if one of the parents suffers from this disease, since the disease is inherited in an autosomal dominant manner, which means that the probability of passing on the mutation to offspring is 50%. Spontaneous mutations account for the majority of cases, and the factors influencing the occurrence of these mutations are not fully understood. To date, no influence of external factors such as infections or environmental exposure has been identified on the risk of developing tuberous sclerosis.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The diagnosis of tuberous sclerosis is based on clinical features, genetic testing, and imaging studies. The main symptoms of the disease include:<br \/>\n\u2014 Epileptic seizures (observed in 80% patients).<br \/>\n- Mental retardation and developmental delay.<br \/>\n\u2014 Skin lesions (angiofibromas of the face, hypomelanotic spots).<br \/>\n\u2014 Kidney damage (angiomyolipomas).<br \/>\n- Heart damage (rhabdomyomas).<br \/>\n\u2014 Lung damage (lymphangioleiomatosis).<br \/>\nLaboratory methods include molecular genetic testing to detect mutations in the TSC1 and TSC2 genes. Radiological diagnostics, including MRI and CT of the brain, help identify tubercles and hamartomas, as well as assess the extent of damage to internal organs. Differential diagnosis is carried out with other diseases that can cause epileptic seizures and skin lesions, such as neurofibromatosis.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of tuberous sclerosis is aimed at controlling symptoms and preventing complications, as there is no specific therapy that eliminates the cause of the disease. The main treatment methods include:<br \/>\n\u2014 Control of epilepsy with antiepileptic drugs (valproic acid, levetiracetam, topiramate).<br \/>\n\u2014 Use of mTOR inhibitors (sirolimus, everolimus), which inhibit cell growth and can reduce the size of hamartomas and angiomyolipomas.<br \/>\n\u2014 Surgical treatment in case of severe complications, such as large kidney or heart tumors that threaten the patient\u2019s life.<br \/>\n- Symptomatic treatment of skin lesions using laser therapy or other cosmetic procedures.<br \/>\nPatients with tuberous sclerosis require a multidisciplinary approach to treatment, including the participation of neurologists, dermatologists, nephrologists and cardiologists.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u2014 Everolimus is an mTOR inhibitor used to shrink tumors in tuberous sclerosis.<br \/>\n\u2014 Sirolimus is a similar drug that also targets mTOR activity.<br \/>\n\u2014 Valproic acid is an antiepileptic drug used to control seizures.<br \/>\n- Levetiracetam is an antiepileptic drug.<br \/>\n\u2014 Topiramate is another drug for the treatment of epilepsy, used in tuberous sclerosis.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Patients with tuberous sclerosis require regular monitoring to detect complications and adjust treatment in a timely manner. Important monitoring steps include:<br \/>\n\u2014 Regular MRI and CT scans to assess the condition of the brain, kidneys and lungs.<br \/>\n\u2014 Electroencephalography to monitor epileptic activity.<br \/>\n\u2014 Assessment of the condition of the heart and blood vessels, especially in children.<br \/>\n\u2014 Monitoring the child\u2019s development and cognitive functions.<br \/>\nThe prognosis depends on the degree of damage to various organs. In most cases, early treatment improves the patient&#039;s quality of life and prevents serious complications.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Tuberous sclerosis manifests at various ages, although most patients begin to show symptoms in childhood. Seizures usually begin in early childhood, often in the first years of life. Skin lesions and developmental delays also become noticeable in childhood. In adults, the disease may be less aggressive, but progressive damage to internal organs such as the kidneys and lungs may occur, requiring constant monitoring. Older patients may develop complications associated with the long-term course of the disease, such as kidney failure or heart problems.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What is tuberous sclerosis?<\/strong> It is a rare genetic disorder characterized by the development of benign tumors in various organs, including the brain, kidneys and skin.<\/li>\n<li><strong>What are the symptoms of tuberous sclerosis?<\/strong> The main symptoms include epileptic seizures, mental retardation, skin lesions and damage to internal organs.<\/li>\n<li><strong>How is tuberous sclerosis transmitted?<\/strong> The disease is inherited in an autosomal dominant manner, but in most cases it is caused by spontaneous mutations.<\/li>\n<li><strong>Are there treatments for tuberous sclerosis?<br \/>\n<\/strong><\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Tuberous sclerosis, or Bourneville disease, is a rare genetic disorder characterized by the development of benign tumors (hamartomas) in various organs, including the brain,<\/p>","protected":false},"author":1,"featured_media":23508,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-13154","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13154","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=13154"}],"version-history":[{"count":2,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13154\/revisions"}],"predecessor-version":[{"id":14199,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13154\/revisions\/14199"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/23508"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=13154"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=13154"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=13154"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}