Tuberous Sclerosis with Recurrent Pneumothoraces and Lung Transplantation-A Case Report

結節性硬化症合併反覆性氣胸及肺移植－一個案例報告

曾嘉成(Chia-Cheng Tseng) ； 吳沼漧(Chao-Chien Wu) ； 林孟志(Meng-Chih Lin) ； 謝敏璋(Ming-Jang Hsieh)

《胸腔醫學》 19卷2期 (2004/04) Pp. 145-151

https://doi.org/10.29806/TM.200404.0010

摘要

結節性硬化症合併肺部侵犯是非常罕見的。在這裡我們報導一個反覆性自發性氣胸的案例，最後發生肺心症且內科藥物治療無效而實施肺臟移植。這一個結節性硬化症的23歲女性病患，以反覆性自發性氣胸為其初始症狀，她有右腎血管肌肉脂肪瘤的過去病史，在兩臉頰及腰臀部的皮膚病灶發現血管纖維瘤，皮膚病灶在孩提時即存在。在超音波檢查下也發現肝臟腫瘤且數年之後腫瘤皆無變大的趨向，應是良性腫瘤；這些發現肯定結節性硬化症的診斷。隨著疾病的進展，胸部X光發現更多的間質性浸潤及蜂窩狀的改變，肺功能也逐漸阻塞並惡化，慢性呼吸衰竭及肺心症在十年後發生，肺臟移植在內科藥物治療失效後實施，但病患依然在肺移植一年後因嚴重感染及惡性淋巴瘤死亡。
到今天為止，對於結節性硬化症依然沒有比較有效的治療方法，雖然卵巢切除術及黃體素劑在一些病人身上看到療效，但只有肺臟移植，在一些肺部嚴重侵犯的病人上，是唯一可以治療痊癒的選譯。

關鍵字

結節性硬化症 ； 自發性氣胸 ； 肺臟移植 ； 淋巴管平滑肌增生症

並列摘要

Tuberous sclerosis with lung involvement is very rare. We report herein a case of tuberous sclerosis with recurrent spontaneous pneumothraces, for which lung transplantation was ultimately performed due to refractory cor pulmonale. A 23-year-old woman with tuberous sclerosis presented with recurrent pneumothoraces at our hospital. She had had a past history of right renal angiomyolipoma, and since childhood, she had been noted to have skin lesions with angiofibromas on both cheeks and in the lumbosacral area. With the assistance of sonography, she was also found to have hepatic tumors that had not grown for several years, indicating they were benign. These findings confirmed our diagnosis of tuberous sclerosis. As the disease progressed, chest radiographs revealed more interstitial lung infiltration and honeycombing change. Her pulmonary function also deteriorated progressively. Chronic respiratory failure began in 1999. Although she underwent lung transplantation, she died one year later due to severe infection and malignant lymphomas.
To date, no one has reported an effective treatment for tuberous sclerosis. Although oophorectomy and treatment with progestational agents have been reported to provide improvement or stabilization of the disease in a subset of patients, only lung transplantation, which is an option for some patients, offers the possibility for cure.

並列關鍵字

tuberous sclerosis ； recurrent pneumothoraces ； lung transplantation ； lymphagioleiomyomatosis