台灣結節性硬化症：臨床特徵與照顧者資訊需求

Abstract

結節性硬化症是全身多系統受影響的自體顯性遺傳疾病，在身體多處會產生異位瘤，包括腦、皮膚、腎臟、心臟及其他內臟器官。造成結節性硬化症的基因分別為TSC1和TSC2，因基因穿透度不同，導致臨床表徵差異性極大。患者表現的症狀僅有其中一或兩種，或是複合徵狀。病況也可能從輕度者只有皮膚的症狀至重度者有嚴重癲癇和智能不足等差異。 本研究目的是探討台灣結節性硬化症的臨床特徵和照顧者的資訊需求。臨床特徵研究採病歷檢閱方式，以台大醫院結節性硬化症病患為研究樣本，回溯分析結節性硬化症的臨床特徵；照顧者的資訊需求以結構式問卷立意取樣方式，對結節性硬化症協會病友的照顧者做調查。 臨床特徵研究結果，男性53位，女性病患48位，平均年齡為18.97歲，診斷年齡ㄧ歲以下為最大群體，佔總人數的38.6%。結節性硬化症的病患，93.1%會出現皮膚病徵、90.1%會出現腦部病灶、87.1%會出現癲癇。在內臟器官方面，心臟橫紋肌瘤於10歲以下佔多數。相反的，腎臟血管肌脂瘤和肺臟淋巴管肌瘤在大於20歲的族群常見。 患童照顧者資訊需求研究結果顯示，整體資訊需求屬於「需要」的程度。治療的資訊、隨著年紀可能發生的病況和依時間需要接受的追蹤檢查資訊，為資訊需求的前三名。照顧者整體知識分數屬於清楚的程度。照顧者的資訊需求與患童的罹病時間和照顧者的教育程度呈顯著的相關。罹病時間越短、教育程度越高者資訊需求越高；照顧者的疾病與醫療相關知識與患童有無做基因檢查呈現顯著的差異；且與照顧者的教育程度和家庭每月平均收入呈顯著的相關。有做基因檢查者、教育程度和家庭每月平均收入越高者，其對於疾病與醫療的相關知識愈好。 癲癇和皮膚特徵是結節性硬化症常見的病徵，建議所有癲癇病患應詳細檢查皮膚病徵或是接受腦部影像檢查，做結節性硬化症篩檢。遺傳諮詢的過程，應考量個案的個別需求及影響因素。對於教育程度較低與主動獲取醫療相關資訊動機較弱的照顧者，應主動提供有關遺傳疾病照護的訊息，並以淺顯易懂的方式傳達。

Tuberous sclerosis complex(TSC) is an autosomal dominant inherited disease affecting multisystems by hamartomas which include brain、skin、renal 、cardiac and the other organs. The genetic basis of TSC has been determined due to mutation in either one of two unlinked gene, TSC1 and TSC2. The widely variable phenotype expression by genetic penetrating. The manifestations can be mild skin lesion to severe seizure and mental retardation. The aim of this study was to assess tuberous sclerosis complex (TSC) clinical features and caregiver information needs in Taiwan. Clinical study was a retrospective review, the medical records available for possible diagnosis of TSC at National Taiwan University Hospital. The caregiver information needs are survey by purposive sampling, a structured questionnaire was used. The sample of caregivers for children with TSC wewe collected from the Taiwan Association of Tuberous Sclerosis Complex. The results of clinical features were 53 male and 48 female, mean age is 18.97 years old. Most of our patients (38.6%) were diagnosis under first year. The most frequent manifestations were those of the skin lesions (93.1%), brain lesions (90.1%) and seizure (87.1%). In visceral organ, most cardiac rhabdomyoma was in less than 10 years old group. On the contrary, renal angiomyolipoma and lung lymphangiomyomatosis were over 20 years old group. The over-all results of caregiver information needs were「need」, treatment information、over time may developed manifestations and periodically follow up test were the most important. The over all results of caregivers’ knowledge about TSC were「clear」. There are significant associations between Caregiver information needs; it’s frequency of mobility, educational level, knowledge about TSC, gene test, and family income. Seizure and skin lesions were more common in tuberous sclerosis complex and recommend that all indivials presenting with seizure and skin clinical features should have extensive investigation. Realization of Individual needs and influencing factor may improve the effectiveness of genetic counseling. We should be active providing genetic medical knowledge and translate easier-understanding for lower educational level or lower motivation for procuration of medical information.