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Endocrine and exocrine pancreatic function and the ΔF508 mutation in cystic fibrosis
Author(s) -
Lanng Susanne,
Schwartz Marianne,
Thorsteinsson Birger,
Koch Christian
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03107.x
Subject(s) - cystic fibrosis , exocrine pancreatic insufficiency , medicine , endocrine system , endocrinology , heterozygote advantage , genotype , δf508 , pancreatic disease , mutation , compound heterozygosity , pancreatic function , pancreas , biology , gastroenterology , cystic fibrosis transmembrane conductance regulator , genetics , hormone , gene
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 Δ 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 Δ F508 mutation. Exocrine pancreatic sufficiency (no need for pancreatic enzyme substitution) was found in 0.6% of the patients homozygous for the Δ F508 mutation and in 10.4% of the heterozygotes (p<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<0.001). The four patients (1.9%) without the Δ F508 mutation had normal glucose tolerance but exocrine pancreatic insufficiency. In conclusion, the major mutation genotype in CF ( Δ F508) affects the severity of the exocrine pancreatic insufficiency, whereas endocrine pancreatic function is unrelated to this genotype.