Division of Pediatric Endocrinology, University of Virginia, Charlottesville, VA, United States.
Front Endocrinol (Lausanne). 2022 Jul 12;13:935354. doi: 10.3389/fendo.2022.935354. eCollection 2022.
Since cystic fibrosis (CF) was first described in 1938, there have been many discoveries and innovations in the field, each having a profound impact on survival, growth and quality of life. For example, the introduction of enteric-coated pancreatic enzyme microspheres increased fat absorption and improved nutritional status. Early detection of CF through newborn screening facilitated prompt nutritional intervention for infants at high risk of malnutrition. Use of anti-pseudomonal therapy, such as inhaled tobramycin, increased weight gain and pulmonary function in addition to reducing pulmonary exacerbations. Similarly, DNAse and hypertonic saline improved pulmonary function and reduced exacerbations. The identification of the gene and its protein product were fundamental in understanding the pathophysiology of CF and paved the way for advances in both diagnosis and management. In fact, CFTR modulator therapies have revolutionized the care for individuals with CF. Here, we examine the impact of these interventions on the nutritional status, growth and pubertal maturation of children and adolescents with CF.
自 1938 年首次描述囊性纤维化 (CF) 以来，该领域取得了许多发现和创新，每一项都对生存、生长和生活质量产生了深远的影响。例如，肠溶性胰腺酶微球的引入增加了脂肪吸收并改善了营养状况。通过新生儿筛查早期发现 CF，为有营养不良高风险的婴儿及时进行营养干预提供了便利。使用抗假单胞菌治疗，如吸入妥布霉素，除了减少肺部恶化外，还增加了体重和肺功能。同样，DNAse 和高渗盐水也改善了肺功能并减少了恶化。基因及其蛋白产物的鉴定对于理解 CF 的病理生理学至关重要，并为诊断和管理的进展铺平了道路。事实上，CFTR 调节剂疗法彻底改变了 CF 患者的治疗方式。在这里，我们研究了这些干预措施对 CF 儿童和青少年营养状况、生长和青春期成熟的影响。
