罕見疾病McLeod症候群的實驗室診斷及輸血策略部醫學中心常見胃腸道感病原體的現況分析

Laboratory Diagnosis of Rare Disease McLeod Syndrome and Patient Transfusion Management

背景: McLeod症候群是一種位於性聯X染色體上XK基因發生突變的罕見隱性遺傳多系統疾病，造成XK蛋白異常，導致kx抗原缺少。輸血醫學上，若病人未診斷為McLeod症候群，輸注一般血球製品後，很容易產生Kx或Kx+Km的抗體，會導致病患需輸血時無法找到交叉相合的血液製品，因此建議有類似McLeod症候群症狀之患者進行基因檢測，鑑別是否發生XK基因突變，以便於臨床診斷及後續患者輸血安全。
結果:實驗室檢查結果發現病人的紅血球k抗原表現降低，血液抹片檢查有棘狀紅血球增多的現象，基因檢測發現新的基因缺失（c.435delC）。

Background: McLeod syndrome is an X-linked recessive multisystem disorder resulted from the mutation in XK gene and produced abnormal XK proteins causing weakened k antigen expression.In transfusion medicine, if the patient has not been diagnosed with McLeod syndrome, it’s highly possible to develop anti-Kx or anti-Kx+Km antibody after receiving blood cell transfusion.It would make it difficult to issue compatible blood products for McLeod syndrome patients. Therefore, McLeod syndrome potential patients are suggested doing the genetic examination to diagnose possible XK gene mutation. This will make it easier to do clinical diagnosis and transfusions safety in the future.
Result: The laboratory examination showed thatweakened k antigen expression and acanthocytosis were demonstrated andfound a novel mutation in the XK gene.