Adult Cystic Fibrosis Program, National Jewish Health, 1400 Jackson Street, Denver, CO 80206, USA.
Am J Respir Crit Care Med. 2010 Sep 1;182(5):614-26. doi: 10.1164/rccm.201001-0092OC. Epub 2010 May 6.
Long-term survivors of cystic fibrosis (CF) (age > 40 yr) are a growing population comprising both patients diagnosed with classic manifestations in childhood, and nonclassic phenotypes typically diagnosed as adults. Little is known concerning disease progression and outcomes in these cohorts.
Examine effects of age at diagnosis and gender on disease progression, setting of care, response to treatment, and mortality in long-term survivors of CF.
Retrospective analysis of the Colorado CF Database (1992-2008), CF Foundation Registry (1992-2007), and Multiple Cause of Death Index (1992-2005).
Patients with CF diagnosed in childhood and who survive to age 40 years have more severe CFTR genotypes and phenotypes compared with adult-diagnosed patients. However, past the age of 40 years the rate of FEV(1) decline and death from respiratory complications were not different between these cohorts. Compared with males, childhood-diagnosed females were less likely to reach age 40 years, experienced faster FEV(1) declines, and no survival advantage. Females comprised the majority of adult-diagnosed patients, and demonstrated equal FEV(1) decline and longer survival than males, despite a later age at diagnosis. Most adult-diagnosed patients were not followed at CF centers, and with increasing age a smaller percentage of CF deaths appeared in the Cystic Fibrosis Foundation Registry. However, newly diagnosed adults demonstrated sustained FEV(1) improvement in response to CF center care.
For patients with CF older than 40 years, the adult diagnosis correlates with delayed but equally severe pulmonary disease. A gender-associated disadvantage remains for females diagnosed in childhood, but is not present for adult-diagnosed females.
囊性纤维化（CF）的长期生存者（年龄>40 岁）数量不断增加，其中包括儿童时期被诊断出具有典型表现的患者，以及成年后被诊断出的非典型表型患者。对于这些患者群体的疾病进展和结局，我们知之甚少。
研究诊断时年龄和性别对 CF 长期生存者疾病进展、治疗设置、治疗反应和死亡率的影响。
对科罗拉多 CF 数据库（1992-2008 年）、CF 基金会注册处（1992-2007 年）和死因多重索引（1992-2005 年）进行回顾性分析。
与成年诊断的患者相比，儿童期诊断且存活至 40 岁的 CF 患者具有更严重的 CFTR 基因型和表型。然而，在 40 岁以后，这两个队列的 FEV1 下降率和因呼吸并发症死亡的比率没有差异。与男性相比，儿童期诊断的女性更不可能活到 40 岁，FEV1 下降速度更快，但没有生存优势。女性构成了大多数成年诊断的患者群体，尽管诊断年龄较晚，但她们的 FEV1 下降率相等，且生存时间更长。大多数成年诊断的患者并未在 CF 中心接受随访，随着年龄的增长，CF 基金会注册处中 CF 死亡人数的比例较小。然而，新诊断的成年人在接受 CF 中心治疗后，FEV1 持续改善。
对于年龄大于 40 岁的 CF 患者，成年诊断与延迟但同样严重的肺部疾病相关。对于儿童期诊断的女性，仍然存在性别相关的劣势，但成年诊断的女性则没有。
