Pediatric Endocrinology Unit, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
Pediatric Endocrinology Unit, Instituto da Criança, Hospital das Clínicas, Faculty of Medicine, University of São Paulo (ICr-HC-FMUSP), São Paulo, Brazil.
J Pediatr Endocrinol Metab. 2020 Jul 28;33(7):835-843. doi: 10.1515/jpem-2019-0484.
Cystic fibrosis (CF) is a highly prevalent autosomal recessive disorder that is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene (7q31.2), which encodes the CFTR chloride-anion channel that is expressed in several tissues. Life expectancy has increased significantly over the past few decades due to therapeutic advances and early diagnosis through neonatal screening. However, new complications have been identified, including CF-related diabetes (CFRD). The earliest detectable glycemic abnormality is postprandial hyperglycemia that progresses into fasting hyperglycemia. CFRD is associated with a decline in lung function, impairments in weight gain and growth, pubertal development, and increased morbidity and mortality. Annual screening with oral glucose tolerance test is recommended beginning at the age of 10, and screenings are recommended for any age group during the first 48 h of hospital admission. Fasting plasma glucose levels ≥126 mg/dL (7.0 mmol/L) or 2-h postprandial plasma glucose levels ≥200 mg/dL (11.1 mmol/L) that persist for more than 48 h are diagnostic criteria for CFRD. Under stable health condition, the diagnosis is made when laboratory abnormalities in accordance with the American Diabetes Association criteria are detected for the first time; however, levels of HbA1c <6.5% do not rule out the diagnosis. Treatment for CFRD includes insulin replacement and a hypercaloric and hyperproteic diet that does not restrict carbohydrates, fats or salt, and diabetes self-management education. The most important CFRD complications are nutritional and pulmonary disease deterioration, though the microvascular complications of diabetes have already been described.
囊性纤维化（CF）是一种高度普遍的常染色体隐性遗传病，由 CF 跨膜电导调节因子（CFTR）基因（7q31.2）突变引起，该基因编码在多种组织中表达的 CFTR 氯离子通道。由于治疗进展和通过新生儿筛查进行早期诊断，过去几十年的预期寿命显著增加。然而，已经确定了新的并发症，包括 CF 相关糖尿病（CFRD）。最早可检测到的血糖异常是餐后高血糖，进而发展为空腹高血糖。CFRD 与肺功能下降、体重增加和生长受损、青春期发育、以及发病率和死亡率增加有关。建议从 10 岁开始进行口服葡萄糖耐量试验的年度筛查，并且在住院的头 48 小时内，建议任何年龄组都进行筛查。空腹血浆葡萄糖水平≥126mg/dL（7.0mmol/L）或餐后 2 小时血浆葡萄糖水平≥200mg/dL（11.1mmol/L）持续超过 48 小时是 CFRD 的诊断标准。在稳定的健康状况下，当首次检测到符合美国糖尿病协会标准的实验室异常时，即可做出诊断；然而，HbA1c 水平<6.5%并不能排除诊断。CFRD 的治疗包括胰岛素替代和高卡路里、高蛋白饮食，不限制碳水化合物、脂肪或盐，以及糖尿病自我管理教育。CFRD 最重要的并发症是营养和肺部疾病恶化，尽管已经描述了糖尿病的微血管并发症。
