Mitochondrial Diseases

粒線體疾病

遲景上(Ching-Shiang Chi)

《童綜合醫學雜誌》 4卷2期 (2010/12) Pp. 49-62

https://doi.org/10.29838/TMJ.201012.0001

摘要

粒線體疾病為源於各種不同程度的粒線體能量代謝異常，造成腺苷三磷酸製造減少所產生的疾患，其臨床症狀非常廣泛且常為多器官系統疾病。
粒線體疾病臨床症狀相當多樣化，最常被影響的器官為腦部及肌肉系統，因為這些器官的能量需求最高。國內在1988年提出第一例粒線體個案報告後，臨床醫師逐漸瞭解此病。粒線體疾病在臨床上可分為兩大類：一類為症候群粒線體疾病，這類症候群粒線體疾病中各自有特定的臨床症狀，因此易於做臨床診斷；另一類為非症候群粒線體疾病，這類患者的症狀非常廣泛，臨床醫師不易早期診斷。
粒線體疾病的實驗室檢驗項目，包括乳酸、口服葡萄糖乳酸刺激試驗、有機酸分析、胺基酸分析及肉鹼蛋白檢測。另外，可利用腦部核磁共振攝影、腦部核磁共振氫頻譜、肌肉切片之特殊染色及電子顯微鏡檢查、呼吸鏈酵素檢驗、粒線體或細胞核基因分析等協助臨床診斷。雖然診斷工具種類很多，但沒有單一診斷工具具高度敏感性足以診斷粒線體疾病。
熟悉粒線體疾病多樣化的臨床表現可使臨床醫師對此疾病提高警覺性，藉助實驗室數據、病理發現、神經影像學表現及基因分析之結果綜合判斷，大部分粒線體疾病能在疾病早期確診，使病患得到各專科醫師的適當的照顧。

關鍵字

粒線體疾病 ； 臨床表現 ； 診斷工具 ； 台灣

並列摘要

Mitochondrial diseases (MDs) are a clinically heterogeneous and often multisystemic group of metabolic disorders that are caused by a large variety of defects in mitochondrial energy metabolism that results in diminished adenosine triphosphate production.
Clinical symptoms and signs of MDs can be variable, but most commonly affect the brain and muscles, in which demands on oxidative energy metabolism are highest. Since 1988, when the first MD case was reported in Taiwan, physicians gradually have had a clearer picture of the disease. There are two types of MDs in clinical classification: syndromic MDs and non-syndromic MDs. Specific mitochondrial syndromes are easy to diagnose because each of them has its own clinical phenotypes. However, it is not easy to diagnose non-syndromic MDs during the early stage of disease course due to various clinical features.
Basic laboratory tests for MDs include blood lactate, oral glucose lactate stimulation test, metabolic assays of tandem mass and organic acids, and carnitine level. In addition, neuroimaging studies consisting of brain magnetic resonance imaging and magnetic resonance spectroscopy, specific histochemical staining and electron microscopic examination of muscle biopsy, respiratory chain enzyme analysis, genetic analysis of mitochondrial or nuclear DNA, are helpful for diagnosing MDs. Even though there are many diagnostic tools, none of them is sensitive enough to make a confirmative diagnosis without being used in combination with other tools.
With a high level of clinical alertness based on greater familiarity with notorious variability in clinical presentations and an organized diagnostic approach by gathering evidences from laboratory, pathological, neuroradiological, and genetic parameters, most MDs can be confirmed early in their course and be managed across all specialties.

並列關鍵字

Mitochondrial diseases ； Clinical manifestations ； Diagnostic tools ； Taiwan