Cystic Fibrosis in Two Chinese Infants in Taiwan

囊性纖維化在東方人並不常見，本院目前發現兩例確定病例，除了有陽性之汗液試驗外，兩位病人均有生長遲滯、反覆性肺炎及胰臟消化功能不良的現象。病例一死亡後之病理解剖與臨床診斷相符，而病例二則有基因突變之發現。經給予特殊配方奶粉、大量脂溶性維他命、消化酵素、及含鹽份較高之飲料補充流失的汗液後，她們便不再有電解質不平衡及代謝性鹼中毒的情況。病例二至目前為止發育正常，體重亦穩定增加。由於此兩例病例均有兄長於嬰兒期死於類似的症狀，我們希望對於合併有低鈉、低氯性鹼血症、及反覆性肺炎或慢性腹瀉的病人，應把囊性纖維化列為主要之鑑別診斷，也許囊性纖維化在臺灣並非如此罕見。而早期的發現與治療對於病人之預後自有相當之影響。

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並列摘要

Cystic fibrosis was diagnosed in two female infants, respectively nine months old (Case 1) and six months old (Case 2). Clinical presentation of these two infants showed frequent episodes of pneumonia, dehydration and poor weight gain, despite fair intake of food since birth. Hyponatremic, hypochloremic metabolic alkalosis had been found during their previous hospitalizations. In Case 1, stool fat was positive with negative trypsin test. Both cases had abnormal findings on chest X-ray films, but the pancreas showed no remarkable cystic changes from sonography. Plastic-bag method of sweat test showed Na/Cl: 155/185nmol/L in Case 1, Na/Cl: 127/135nmol/L in Case 2. A family history was suggested, since each one had an elder brother who had died in early infancy with similar clinical presentations. Both patients were put on special diet therapy as well as chest physical therapy. Case I died suddenly at 16 months of age. Autopsy revealed mucusplugged dilated ducts with atrophy of the exocrine portion of the pancreas. DNA analysis in Case 2 showed abnormal mutation point at 1898+5G →T on chromosome 7.

並列關鍵字

cystic fibrosis ； hypochloremic metabolic alkalosis ； sweat test ； Chinese infant

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Cystic Fibrosis in Two Chinese Infants in Taiwan

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