[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-456064-105":59,"doc-detail-456064-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","clinical-management-of-tuberous-sclerosis-a-nephrologists-perspective-review","Clinical Management of Tuberous Sclerosis - A Nephrologist’s Perspective - Review","","Clinical Management of Tuberous Sclerosis presents Tuberous sclerosis complex (TSC) as a highly variable autosomal dominant disorder characterized by benign hamartomas across multiple organ systems, with kidney disease anchored in angiomyolipomas that drive CKD, hypertension, retroperitoneal bleeding, and potential renal cell carcinoma. The review explains how epidemiology and genetics illuminate evaluation, diagnosis, and multidisciplinary long-term surveillance, including kidney lesion monitoring, kidney function and blood pressure assessment, and early mTOR inhibitor–based interventions to reduce kidney-related morbidity and mortality.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/clinical-management-of-tuberous-sclerosis-a-nephrologists-perspective-review/456064/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/clinical-management-of-tuberous-sclerosis-a-nephrologists-perspective-review/456064.png","ImageObject",300,407,{"name":92,"@type":93},"Terk","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-06","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":52},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What role does nephrology play in tuberous sclerosis complex management?","Question",{"text":112,"@type":113},"Nephrology involvement is driven by the morbidity and mortality associated with kidney lesions, especially angiomyolipomas, which increase risk of CKD, hypertension, and retroperitoneal bleeding, and may be linked to renal cell carcinoma.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Why does TSC show such wide variability in disease manifestations?",{"text":117,"@type":113},"TSC demonstrates phenotypic variability through variable expressivity and penetrance, where patients with the same genotype can develop markedly different phenotypes. Additional factors such as disease modification by other genes, environmental influences, or happenstance may contribute.",{"name":119,"@type":110,"acceptedAnswer":120},"How can surveillance and early intervention reduce kidney-related complications in TSC?",{"text":121,"@type":113},"Monitoring kidney structural lesions, kidney function, and blood pressure supports early interventions. Examples include mammalian target of rapamycin (mTOR) inhibitor therapy to limit kidney-related morbidity and mortality.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},456064,1790974699,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":52,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":39,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":46,"preview_page_count":4},1099525198933,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","Clinical Management of Tuberous Sclerosis A Nephrologist’s Perspective  \nJielu Hao Robichaud , 1 Humayra Afrin, 1 Vicente E. Torres  , 1 and Navin R. Gupta  1,2  \nTuberous sclerosis complex (TSC) is a highly variable autosomal dominant disease characterized by dysregulated organ development and growth. Benign tumors, termed hamartomas, may occur across organ systems but typically involve the kidney, brain, skin, heart, and lung. The diagnosis, surveillance, and clinical management of TSC requires a multidisciplinary approach, adopted by dedicated multispecialty centers worldwide. Nephrology involvement predominantly stems from the morbidity and mortality related to the prototypical kidney lesion, angiomyolipomas, whose presence and degree confers risk of CKD, hypertension, retroperitoneal bleeding, and possibly renal cell carcinoma. Surveillance of kidney structural lesions, kidney function, and BP may enable early interventions that limit kidney-related morbidity and mortality, such as mammalian target of rapamycin inhibitor therapy. We review the epidemiology, genetics, and pathogenesis of TSC and how these inform the evaluation, diagnosis, and clinical management of TSC from the vantage point of the treating nephrologist.  \nKidney360 6: 1818–1825, 2025. doi: [https://doi.org/10.34067/KID.0000000904](https://doi.org/10.34067/KID.0000000904)  \nIntroduction  \nTuberous sclerosis complex (TSC) is a rare autosomal dominant disorder that afflicts 1:6000–1:10,000 live birthsand is caused by pathologic loss-of-function (LoF) variants in either TSC complex subunit 1 (TSC1) or TSC complex subunit 2 (TSC2) .1,2 TSC is characterized by pleomorphic benign tumors of multiple organ systems, including the kidney, brain, skin, heart, and lung. These benign tumors, or hamartomas, are disorganized tissue comprised of cells that normally occur in the resident tissue, suggesting a developmental error.3 While the masses are typically noncancerous, subsequent disease manifestations may confer significant morbidity and potential mortality to necessitate early diagnosis, lifelong surveillance, and prompt clinical management.  \nEpidemiology  \nIn TSC, there is a high degree of phenotypic variability in terms of the severity and number of disease manifestations, with only 29% of patients demonstrating the Vogt diagnostic triad of facial angiofibromas, seizures, and intellectual disability.4 Although TSC has a high degree of penetrance, the percentage of patients with a given genotype who manifest the associated phenotype, there is also highly variable expressivity, meaning that patients with a  \nsimilar genotype may have markedly different phenotypic degrees. Despite having an identical disease-causing variant, intrafamilial variability in expressivity among patients with TSC may decouple genotype and phenotype to suggest disease modification by other genes, environmental factors, or happenstance. The latter was further highlighted by a case of monozygotic twins raised in the same household differing in their severity of epilepsy and cognitive abilities.5 TSC in infancy and childhood most often presents with seizures.6,7 A retrospective study of 243 patients with TSC reflected an age at diagnosis of 0–73 years, with an average of 7.5 years and .80% diagnosed before 10 years. Conversely, presentations in adulthood are generally mild or asymptomatic, most likely due to somatic mosaicism when sporadic or due to highly variable expressivity when familial.7  \nGenetics and Pathogenesis  \nTSC is caused by pathologic LoF variants in the TSC1 and TSC2 loci on chromosomes 9q34 and 16p13, respectively.8,9 TSC1 encodes hamartin, and the gene product of TSC2 is tuberin. Hamartin (TSC1), tuberin (TSC2), and TBC1 domain family member 7 (TBC1D7) form the TSC, which suppresses activation of mammalian target of rapamycin complex 1 (mTORC1) .10 Although LoF variants  \n1Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota  \n2Department of Biochemistry and","cbCaifos4jvUdilf","https://ap.wps.com/l/cbCaifos4jvUdilf","pdf",663498,"English","# Introduction\n# Epidemiology\n# Genetics and Pathogenesis","[{\"question\":\"What role does nephrology play in tuberous sclerosis complex management?\",\"answer\":\"Nephrology involvement is driven by the morbidity and mortality associated with kidney lesions, especially angiomyolipomas, which increase risk of CKD, hypertension, and retroperitoneal bleeding, and may be linked to renal cell carcinoma.\"},{\"question\":\"Why does TSC show such wide variability in disease manifestations?\",\"answer\":\"TSC demonstrates phenotypic variability through variable expressivity and penetrance, where patients with the same genotype can develop markedly different phenotypes. Additional factors such as disease modification by other genes, environmental influences, or happenstance may contribute.\"},{\"question\":\"How can surveillance and early intervention reduce kidney-related complications in TSC?\",\"answer\":\"Monitoring kidney structural lesions, kidney function, and blood pressure supports early interventions. Examples include mammalian target of rapamycin (mTOR) inhibitor therapy to limit kidney-related morbidity and mortality.\"}]","Clinical Management of Tuberous Sclerosis - A Nephrologist’s Perspective - Review | PDF",1790745039]