Tuberous Sclerosis With Renal AML

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  • M tor : mailman target of rapamycin
  • Tuberous Sclerosis With Renal AML

    1. 1. TUBEROUS SCLEROSIS COMPLEX Ahmed Abdul Ghany
    2. 2. INTRODUCTION: TSC is an inherited neuro-cutaneous disorder characterized by multiple benign hamartomas of the skin, eyes, brain, heart, lung, kidney and liver. In 1862 von Recklinghausen identified heart and brain tumors in a newborn that had only briefly lived. However, Bourneville (1880) is credited with having first characterized the disease, thus earning the eponym Bourneville's disease.
    3. 3. GENETICS • Autosomal dominant with incidence 1 in 5000 live births. • Mutation in TSC-1 or TSC-2 genes. • +ve family history in 7 – 37%
    4. 4. Diagnostic criteria Definite TSC 2 major 1 major + 2 minor Probable TSC 1 major plus 1 minor Possible TSC 1 major 2 or more minor
    5. 5. DERMATOLOGICAL LESIONS: 81-95%
    6. 6. Angiofibromas Fibrous plaque
    7. 7. Ash leaf spots Periungual & subangual fibromas
    8. 8. BRAIN LESIONS 90%
    9. 9. Glioneuronal hamartomas Subependymal nodules
    10. 10. SGCA
    11. 11. Clinically (CNS): • Epilepsy affecting 80 – 90% of patients in the form of infantile spasms, simple or complex partial seizures with EEG +ve in 75 % of patients. • Cognitive deficits 44 – 65%. • Autism and behavioral problems.
    12. 12. Hydrocephalus New symptoms or papilledema Diagnostic features associated with increase morbidity Serial imaging showing growth of lesions
    13. 13. RENAL MANIFESTATIONS
    14. 14. Renal Angiomyolipomas (AML) • Common in TSC patients
    15. 15. • Asymptomatic in most cases however symptoms may be related to bleeding or mass effect. • 2 histological types: classic and Epithelioid AML • Diagnosis relies on the demonstration of Fat in the Tumor
    16. 16. Prophylactic surgery? Therapeutic interventions • size ≥4cm to prevent bleeding • Nephron sparing surgery • High vascularity and/or • Selective renal artery aneurysm ≥ 5mm. • High suspicion of malignancy embolization • Radiofrequency ablation • Radical nephrectomy.
    17. 17. Potential issues in women • Female sex hormones promote growth of renal AMLs and their hemorrhagic complications during pregnancy, thus frequency of US surveillance should increase.
    18. 18. Renal cystic disease • The 2nd most common renal manifestation in TSC. • 3 types of renal cysts are associated: • Singe or multiple renal cysts • TSC2/PKD1 contiguous gene syndrome • Glomerulocytic kidney disease.
    19. 19. Chronic kidney disease: • Some TSC patients may develop CKD, subnephrotic proteinuria, hypertension and ESRD in absence of large AML. • Renal biopsy often reveals FSGS.
    20. 20. OPHTHALMIC MANIFISTATIONS
    21. 21. • Retinal hamartomas • Angiofibromas of the eyelid
    22. 22. CARDIOPULMONARY
    23. 23. Cardiac (Rhabdomyoma) Pulmonary (LAM) • Often detected on prenatal US • Lymphangioleiomyomatosis • Benign tumor usually undergo • Manifestations are similar to spontaneous regression. those with interstital lung disease.
    24. 24. Management Everolimus Pulmonary cosmetic Renal AML Seizure control
    25. 25. EVEROLIMUS • FDA approved mTOR inhibitor (ExIST-2 trial) • 50% reduction in AML volume in 3 month • Recommended dose: 10 mg od for 38 weeks • Reasonable candidates are: • patients with renal AML plus other organ affected • Rapidly growing AMLs. • Patients who underwent nephrectomy or embolization.
    26. 26. Prognosis • TSC is a progressive disorder. • Causes of death usually due to status epilepticus or renal disease. • Surveillance is recommended every 2 years including mental, physical examination, MRI brain, US and ECHO.
    27. 27. THANK YOU

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