什麼是囊性纖維樣變性

一種隱性遺傳代謝性疾病，主要侵犯呼吸道、消化道和胰臟，症狀是外分泌腺的分泌物過於黏稠，堵塞相應的管道系統。囊性纖維樣變性可能是歐洲人中最常見的遺傳性疾病，約每2,000個成活嬰兒中即有一位。在肺和呼吸道，細支氣管被高度黏稠的分泌物堵塞，導致呼吸困難、肺氣腫、持續或反覆細菌感染、肺炎、咳嗽、膿痰、進行性肺功能下降、肺心病等，患者最常見的死因是肺病變。在消化道，異常黏稠的消化腺分泌物將消化腺管道堵塞，致使消化液和各種消化不能進入消化道，導致消化和吸收障礙。在多數患者，胰管阻塞會使分泌消化的胰臟腺體產生自我溶解，因此患者常以油膩、惡臭的大塊糞便做爲發病表徵。此外，由於患者的汗腺無法保留鹽分，故可利用汗液含有高濃度鹽分來做爲診斷依據。治療方法包括服用胰消化補充物和攝取含高熱量、高蛋白和高脂肪的食物，積極的物理治療以增強各種外分泌腺的功能，視情況服用抗生素以預防或治療肺部感染。囊性纖維樣變性直至1938年才被承認爲一種特定疾病，隨後被分類爲兒科疾病（因其於嬰兒期和兒童期死亡率極高），至1980年代中期以後，隨着醫療進步，超過半數以上的患者皆可存活至成人。男性成人患者通常伴發不育。

cystic fibrosis (CF)

Inherited metabolic disorder characterized by production of thick, sticky mucus. It is recessive (see recessiveness) and the most common inherited disorder (about 1 per 2,000 live births) in those of European ancestry. Concentrated mucous secretions in the lungs plug the bronchi, making breathing difficult, promoting infections, and producing chronic cough, recurrent pneumonia, and progressive loss of lung function, the usual cause of death. The secretions interfere with digestive enzymes and block nutrient absorption. Abnormally salty sweat is the basis for diagnosis of cystic fibrosis. Treatment includes enzyme supplements, a diet high in calories, protein, and fat, vigorous physical therapy, and antibiotics. Persons with cystic fibrosis once seldom survived beyond childhood; now more than half reach adulthood, though males are usually sterile.