결절경화증의 표적치료제(Everolimus) 투여 후 호전된 망막성상세포과오종
Regressed Retinal Astrocytic Hamartomas in Tuberous Sclerosis by Mammalian Target of Rapamycin Inhibitor (Everolimus) Treatment
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
목적: 결절경화증 환아에서 mammalian target of rapamycin (mTOR) 억제제(everolimus) 치료 후 망막성상세포과오종 병변의 두께가감소하는 호전을 보여 이를 보고하고자 한다. 증례요약: 결절경화증으로 진단받은 12세 여아가 정기적 안저검사를 위해 방문하였다. 환아는 생후 3개월경 양안 안저에서 다발성성상세포과오종이 발견된 후 1년마다 경과 관찰하였고 만 10세경 안저검사까지 병변의 변화가 없었다. 마지막 검사 2개월 후 경련이있어 치료를 위해 소아신경과에서 everolimus (5 mg, AFINITOR®, Novartis, Bazel, Switzerland)을 17개월간 처방하였고, 이후 시행한안저검사와 빛간섭단층촬영에서 뚜렷한 3군데 과오종의 평균두께가 676 μm에서 500 μm로 25% 감소하였다. 결론: 결절경화증 환자에서 mTOR 억제제는 심각한 부작용 없이 전신의 과오종과 경련을 치료할 수 있는 표적치료제이며, 일반적으로자연적인 호전이 극히 드물다고 알려진 망막성상세포과오종의 크기를 감소시키는 효과가 있었다. 후극부나 시신경유두 주변에 발생하여 시력과 시야에 영향을 주는 과오종의 경우 everolimus를 치료적 수단으로 고려할 수 있겠다.
Abstract
Purpose: We report a case of regressed retinal astrocytic hamartomas (RAHs) in tuberous sclerosis complex (TSC) patients by mammalian target of rapamycin inhibitor (everolimus) treatment. Case summary: A 12-year-old girl diagnosed with TSC visited for regular checkups. The patient had undergone regular fundus examinations every year after the finding of multiple RAHs in both eyes in the initial screening at 3 months of age. There was no change in the size or thickness of the lesions until she reached 10 years of age. Two months later, the patient started systemic everolimus (5 mg, AFINITOR®, Novartis, Basel, Switzerland) treatment for 17 months under the care of a pediatric neurologist for seizure control. Subsequent fundus examination and measurements by optical coherence tomography showed improvement in the maximal thickness of all lesions, specifically, a reduction of 25%. Conclusions: mTOR inhibitors are targeted agents that regress systemic hamartomas and control convulsions without serious side effects in TSC patients. The particular one used in this study, Afinitor everolimus, reduced the RAH size in our patient. Thus, in cases where an RAH affects vision due to its location, everolimus can considered as a therapeutic option.
참고문헌 (15)
- Northrup H, "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational tuberous sclerosis complex consensus conference", Pediatr Neurol, 49, pp.243~254 (2013)
- Curatolo P, "Tuberous sclerosis", Lancet, 372, pp.657~668 (2008)
- Curatolo P, "The role of mTOR inhibitors in the treatment of patients with tuberous sclerosis complex : evidence-based and expert opinions", Drugs, 76, pp.551~565 (2016)
- Zimmer-Galler IE, "Long-term observation of retinal lesions in tuberous sclerosis", Am J Ophthalmol, 119, pp.318~324 (1995)
- Marciano S, "Everolimus for retinal astrocytic hamartomas in tuberous sclerosis complex", Ophthalmol Retina, 2, pp.257~260 (2018)
- Nallasamy N, "Everolimus to treat aggressive retinal astrocytic hamartoma in tuberous sclerosis complex", J AAPOS, 21, pp.328~331 (2017)
- Zhang ZQ, "Sirolimus for retinal astrocytic hamartoma associated with tuberous sclerosis complex", Ophthalmology, 122, pp.1947~1949 (2015)
- Nyboer JH, "Retinal lesions in tuberous sclerosis", Arch Ophthalmol, 94, pp.1277~1280 (1976)
- Töteberg-Harms M, "Retinal astrocytomas : long-term follow-up", Klin Monbl Augenheilkd, 228, pp.337~339 (2011)
- Lonngi M, "Combined bevacizumab and triamcinolone acetonide injections for macular edema in a patient with astrocytic hamartomas and tuberous sclerosis", Ophthalmic Surg Lasers Imaging Retina, 44, pp.85~90 (2013)
- Shields JA, "Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex", Trans Am Ophthalmol Soc, 102, pp.139~147 (2004)
- La TY, "A case of retinal astrocytic hamartoma causing blindness in tuberous sclerosis", J Korean Ophthalmol Soc, 40, pp.1421~1426 (1999)
- 이가현, "결절경화증환자에서 발생한 성상세포 과오종과 연관된 시신경섬유 결손", 대한안과학회지, 54(8), pp.1282~1286 (2013), 대한안과학회
- Eskelin S, "Photodynamic therapy with verteporfin to induce regression of aggressive retinal astrocytomas", Acta Ophthalmol, 86, pp.794~799 (2008)
- House RJ, "Total regression of acquired retinal astrocytoma using photodynamic therapy", Retin Cases Brief Rep, 10, pp.41~43 (2016)