Spencer D A, Venkataraman M, Higgins S, Stevenson K, Weller P H
Cystic Fibrosis Unit, Birmingham Children's Hospital, U.K.
Respir Med. 1994 Oct;88(9):671-5. doi: 10.1016/s0954-6111(05)80065-4.
We have observed that Doctors often perceive that cystic fibrosis (CF) is exceptionally rare in non-whites, and that this bias has repeatedly resulted in diagnostic delay. We therefore compared the age at diagnosis, genetic features and relative prevalence of CF in non-whites and white patients in the West Midlands.
Analysis of data on all CF patients diagnosed in childhood and stored in the West Midlands CF register.
Sixteen of the 514 children on the register were not of white European extraction, comprising 13 patients whose families originated from the Indian subcontinent, two of mixed AfroCaribbean/white European extraction and one of mixed Pakistani/white European extraction. The median age of diagnosis was similar in the white European and non-white patients (0.42 vs. 0.33 years, 95% CI for the difference of the medians -0.15, 0.37). However, in five cases with typical clinical features the diagnosis appears to have been delayed because of the child's racial origin (median age of diagnosis 3.87 years), and in five others the diagnosis was obvious (two siblings with CF, three had meconium ileus). There was a degree of consanguinity in nine cases. Five patients were homozygous or heterozygous for the delta F508 mutation, but no mutation could be identified in the remaining 11 patients.
The possibility of CF needs to be considered in any patient with relevant clinical problems, regardless of racial origin. These findings need to be considered when planning any mass population screening programme for CF.
我们观察到医生常常认为囊性纤维化（CF）在非白人中极为罕见，这种偏见多次导致诊断延误。因此，我们比较了西米德兰兹郡非白人和白人患者的CF诊断年龄、基因特征及相对患病率。
分析西米德兰兹郡CF登记处存储的所有儿童期诊断的CF患者数据。
登记册上的514名儿童中有16名并非欧洲白人血统，其中13名患者的家族来自印度次大陆，2名有非洲加勒比/欧洲白人混血血统，1名有巴基斯坦/欧洲白人混血血统。欧洲白人和非白人患者的诊断中位年龄相似（0.42岁对0.33岁，中位年龄差异的95%置信区间为-0.15，0.37）。然而，在5例具有典型临床特征的病例中，由于患儿的种族原因诊断似乎有所延迟（诊断中位年龄3.87岁），另外5例诊断明确（2例为患CF的兄弟姐妹，3例有胎粪性肠梗阻）。9例存在一定程度的近亲结婚情况。5例患者为ΔF508突变纯合子或杂合子，但其余11例患者未检测到突变。
任何有相关临床问题的患者，无论种族如何，都需要考虑CF的可能性。在规划任何CF大规模人群筛查项目时都需要考虑这些发现。
