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98 年度第二次南區小兒腎臟學術研討會 T uberous Sclerosis Complex with PKD and Renal Hemorrhage

98 年度第二次南區小兒腎臟學術研討會 T uberous Sclerosis Complex with PKD and Renal Hemorrhage. 黃雅雲 ，李青松，邱元佑 國立成功大學醫學院附設醫院小兒部. Basic I nformation. Name: 謝 O 珊 Age: 18-year-old Gender: Fem ale Date of Admission: 2009/2/24 Underline disease: tuberous sclerosis complex. Underlying Disease.

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98 年度第二次南區小兒腎臟學術研討會 T uberous Sclerosis Complex with PKD and Renal Hemorrhage

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  1. 98年度第二次南區小兒腎臟學術研討會Tuberous Sclerosis Complex with PKD and Renal Hemorrhage 黃雅雲，李青松，邱元佑 國立成功大學醫學院附設醫院小兒部

  2. Basic Information • Name:謝O珊 • Age: 18-year-old • Gender: Female • Date of Admission: 2009/2/24 • Underline disease: tuberous sclerosis complex

  3. Underlying Disease • Tuberous sclerosis complex • Skin: • Facial angiofibromas • Hypomelanic macules • Forehead plaques • CNS: giant cell astrocytoma s/p operation (91-4) • Renal: Bilateral multiple huge angiomyolipomas

  4. Present Illness 02/24 5pm • Right flank pain • Pattern: dullness and persistent aggravated • when walk and deep breath 02/24 7pm Sharp pain since 7 pm • No trauma • No fever, no dysuria/ frequency/ urgency NCKUH ER

  5. Renal Sonography

  6. Abdominal CT

  7. Abdominal CT

  8. Hemogram & Biochemistry • Estimated blood loss volume: 500-600 ml

  9. Further Condition • Transcatheter arterial embolization (TAE) or Nephrectomy  bleeding spontaneous ceased • Transferred to general ward on 02/27 & discharged on 03/02

  10. Tuberous Sclerosis Complex • The majority insults leading to death or disability • Neurologic disease –the commonest cause of death in childhood and adolescence • Renal disease – angiomyolipomas (60-80%), leading to renal failure or spontaneous hemorrhage • Selective transcatheter arterial embolization (TAE) • Nephrectomy • Pulmonary manifestation – lymphangioleiomyomatosis, a progressive lung disease

  11. Tuberous Sclerosis Complex • A tumor-suppressor syndrome caused by mutations in the tuberin gene (TSC2) or the hamartin gene (TSC1) • The hamartin–tuberin (TSC1-TSC2) complex regulates the activity of the mammalian target of rapamycin (mTOR) • mTOR -- lies downstream of cellular pathways controlling cell growth and proliferation (G1S) • Abnormal signaling through mTOR is involved in a number of tumor-suppressor syndromes and cancers

  12. Clinical Experience of Rapamycin in Tuberous Sclerosis • Structure analogous -- Sirolimus、CCI-779 (Temsirolimus)、RAD001(Everolimus)、and FK-50 • Case report of sirolimus-induced reduction in angiomyolipoma size clinically was first reported in 2006 • 19 y/o female patient with bilateral renal angiomyolipoma (tumor size, 5.2 x 6.8 x 7.3 cm) (Am J Kidney Dis 2006;48(3):e27-e29) • 38-year-old female with huge angiomyolipoma • Left side: 20.5 cm in diameter; right side: 11.5 cm • 6 mg of sirolimus once daily for 2 years (Eur J Intern Med 2007;18:76-7)

  13. Treatment Effect Before Tx 1 year 2 year 6 months after stopping Tx

  14. Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex • 25patients, 18 to 65 y/o, from May 2003 to November 2004 • All patients received sirolimus for 1 year; followed up for an additional year after stopping medication • Image survey were performed at months 2, 4, 6, 12, 18, and 24 • MRI for brain and abdomen • CT scan for lung N Engl J Med 2008;358:140-51

  15. Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex 0.25 mg/m2 (serum levels prevent rejection in renal transplants) 2 weeks Adjust dose to achieve serum sirolimus level between 1 - 5 ng/ml 2 months 4 The longest coronal-plane dimension ↓10% of the baseline value NO YES Keep current dosage Adjust dose to achieve serum sirolimus level between 5-10 ng/ml 10-15 N Engl J Med 2008;358:140-51

  16. Result-- Angiomyolipoma N Engl J Med 2008;358:140-51

  17. Result-- Angiomyolipoma 70% of the baseline value } 5 of the 18 patients (28%) remained at least 30% smaller than baseline value 1 year after therapy N Engl J Med 2008;358:140-51

  18. Adverse Events

  19. Our Patient • Start Sirolimus (0.25mg/m2) since 2009/03/02 • Follow up renal echo • 03/11: hyperechoic nodules(~5.6cm) in both kidneys • 04/08: hyperechoic nodules(~4.4cm) in both kidneys 03/11 04/08

  20. Thanks for your Attention

  21. CT scan on August, 2008

  22. Physical Examination • Consciousness:clear • Appearance:fair-looking • Vital sign: • T/P/R:36.4°C/ 109 / 14 • BP: 135/85 mmHg • Head: • conj: not anemic • sclera: not icteric • throat: not injected • tonsil: not enlarged • Neck:supple, LAP(-) • Chest: symmetric expansion, subcostal retraction (-) - H.S.: regular heart beat, no audible murmur - B.S.: clear,no crackles • Abdomen: soft, no distended - Tenderness (+) over right flank area and back - No rebounding pain - L/S: impalpable / impalpable - BS: hypoactive • Extremities: pitting edema (-) • Skin: turgor fine, rash(+)

  23. Renal hemorrhage occurred in 51% of patients with lesions 4.0 cm or larger • Current management suggestion: • Asymptomatic lesions • < 4.0 cm: observation with annual CT scan • ≧ 4.0 cm, follow-up CT scans every 6 months • Prophylactic embolization of asymptomatic • lesions 4.0 cm or larger is recommended in select highrisk • patients, including younger women who intend • pregnancy or patients in which regularfollow-up is difficult.

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