PDF(Pubmed)
Abstract：
Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines\' Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
摘要：
囊性纤维化（CF）是亚洲人中的罕见疾病，目前在菲律宾尚未报道。将这种疾病纳入菲律宾扩大新生儿筛查计划（ENBS），为这个菲律宾家庭提供了早期发现和适当管理这种疾病的机会，可以确保先证者和他的其他幸存兄弟姐妹的生存。在这里，我们介绍了一个24个月大的男性病例，该男性的囊性纤维化扩大新生儿筛查（ENBS）测试呈阳性，并最终进行了进一步的测试以确认CFTR基因外显子1-2的纯合缺失。他随后患有复发性肺炎，但由一个由肺科医生组成的小组进行管理，胃肠病学家,和代谢营养师.先证者有一个年长的兄弟姐妹，其新生儿筛查（NBS）测试正常，最终因反复发作的肺炎而过期。这个兄弟姐妹从未被视为囊性纤维化的病例。还讨论了在本地环境中对CF的诊断和管理的影响。应重申针对当地人口定制的适当CF面板的重要性，并应鼓励进行携带者测试，以帮助为所涉家庭的未来怀孕提供适当的家庭咨询。
