D. Cucinotta et al., Factors affecting diabetes mellitus onset in cystic fibrosis: Evidence from a 10-year follow-up study, ACT PAEDIAT, 88(4), 1999, pp. 389-393
This study reports the results of genotype characterization and of a 10-y p
rospective evaluation of clinical status, glucose tolerance and insulin sec
retion in 28 originally normoglycaemic patients with cystic fibrosis (CF).
The aim of the study was to assess whether any genetic, clinical or metabol
ic parameters could identify in advance those patients at risk of developin
g diabetes mellitus over time. During the follow-up 42.8% of patients becam
e diabetic. Neither gender, age nor clinical parameters were significantly
different at entry in the patients who eventually developed diabetes compar
ed with those who did not. Insulin secretion during oral glucose tolerance
tests (OGTT) deteriorated over time in both groups, whereas a progressive d
eterioration of glucose tolerance was only evident in the patients who deve
loped diabetes and increased baseline glucose areas were the only predictiv
e parameter of diabetes onset. Genotype analysis revealed significant diffe
rences between patients with and without diabetes: Delta F508 homozygosis w
as more frequent in the first group and N1303K mutation in the second group
. In conclusion, in CF: (i) increased glucose areas during OGTT and deterio
ration of glucose tolerance over time can predict the evolution towards dia
betes; and (ii) Delta F508 homozygosis may predispose to the risk of diabet
es, whilst N1303K mutation seems to play a protective role.