Lanng S, Schwartz M, Thorsteinsson B, Koch C
Danish Cystic Fibrosis Center, Copenhagen.
Clin Genet. 1991 Nov;40(5):345-8. doi: 10.1111/j.1399-0004.1991.tb03107.x.
The relationship between the cystic fibrosis (CF) genotype and endocrine and exocrine pancreatic function was studied in 215 CF patients. In the 211 patients with the delta F508 mutation, endocrine pancreatic function (oral glucose tolerance; WHO criteria) was normal in 72.5%, impaired in 12.3%, and diabetic in 15.2% of the patients, with no difference between CF patients homozygous (N = 163, median age 15 years, range 2-40) or heterozygous (N = 48, 18 years, 3-40; age difference not significant) for the delta F508 mutation. Exocrine pancreatic sufficiency (no need for pancreatic enzyme substitution) was found in 0.6% of the patients homozygous for the delta F508 mutation and in 10.4% of the heterozygotes (p less than 0.01). Homozygous patients with pancreatic insufficiency took more pancreatic enzyme capsules (median 42 per day, range 0-192) than the heterozygotes (29 per day, 0-300; p less than 0.001). The four patients (1.9%) without the delta F508 mutation had normal glucose tolerance but exocrine pancreatic insufficiency. In conclusion, the major mutation genotype in CF (delta F508) affects the severity of the exocrine pancreatic insufficiency, whereas endocrine pancreatic function is unrelated to this genotype.
在215例囊性纤维化（CF）患者中研究了CF基因型与胰腺内分泌和外分泌功能之间的关系。在211例携带ΔF508突变的患者中，胰腺内分泌功能（口服葡萄糖耐量；WHO标准）正常的患者占72.5%，受损的占12.3%，糖尿病患者占15.2%，ΔF508突变纯合子（N = 163，中位年龄15岁，范围2 - 40岁）或杂合子（N = 48，18岁，3 - 40岁；年龄差异无统计学意义）的CF患者之间无差异。在ΔF508突变纯合子患者中，0.6%的患者存在外分泌胰腺功能充足（无需胰腺酶替代），杂合子患者中这一比例为10.4%（p < 0.01）。胰腺功能不全的纯合子患者比杂合子患者服用更多的胰腺酶胶囊（中位值为每天42粒，范围0 - 192粒）（每天29粒，0 - 300粒；p < 0.001）。4例（1.9%）无ΔF508突变的患者葡萄糖耐量正常，但存在外分泌胰腺功能不全。总之，CF中的主要突变基因型（ΔF508）影响外分泌胰腺功能不全的严重程度，而胰腺内分泌功能与该基因型无关。
