Carbohydrate intolerance and frank diabetes mellitus (DM) are recognised features of cystic fibrosis (CF), but their cause has not been established. Damage to the islet cells due to pancreatic fibrosis is the most common explanation. The relationship between the genotype and the occurrence of diabetes mellitus has been examined in 21 cystic fibrosis patients attending our out-patient chest clinics. DNA samples were tested for the presence of the most common mutation (delta F508) and the results related to the degree of carbohydrate intolerance. We found that in CF patients over 18 years of age diabetes is more frequent among those homozygous for the delta F508 allele than the heterozygotes (P < 0.05). Those homozygous for delta F508 were diagnosed as CF at an earlier age than the heterozygotes (P < 0.05). Both the mean age and the female/male ratio were similar in the diabetic and non-diabetic groups. The prevalence of the delta F508 allele was similar to that expected in a random sample of East Anglian cystic fibrosis patients. These data suggest that the occurrence of diabetes mellitus in patients with cystic fibrosis is related to the genotype, which could be secondary to the way the genetic factors influence the degree of pancreatic disease and its rate of progression.
The incidence of cystic fibrosis over the last 10 years in East Anglia (a region of the United Kingdom with a population of 2.1 million) has halved. This has happened during the establishment of a neonatal screening programme, which has enabled early diagnosis, genetic counselling, and lately the option of prenatal diagnosis in subsequent pregnancies. One hundred and seven children were born with cystic fibrosis between 1981 and 1990, eight of whom were siblings. The Guthrie blood spots of 82 infants detected by neonatal immunoreactive trypsin screening between 1981 and 1990 were examined for the presence of the most common cystic fibrosis gene mutation (delta F508). It was present in 135 (82%) of the 164 cystic fibrosis genes analysed with 54 (66%) cases being homozygous and 27 (33%) heterozygous. Sixty nine per cent of infants were symptomatic at the time of diagnosis regardless of genotype. No association was found between the early clinical or biochemical features of the disease and homozygosity or heterozygosity for this mutation. Screening for cystic fibrosis using the blood immunoreactive trypsin assay alone remains an effective method of identifying infants with the disease soon after birth, thereby allowing early therapeutic intervention. Genetic counselling and prenatal diagnosis have contributed to a reduction in the number of children born with cystic fibrosis, but may not entirely explain the decreasing incidence of the disease.
RIASSUNTONei fusti di Lycopersicum esculentum trattati con 2,4-D furono osservate divisioni diploidi, tetraploidi e ottoploidi nell'endoderma e nel parenchima corticale del terzo internodo. Nello stesso tempo le cellule collenchimatiche della stessa regione sono sottoposte ad attiva divisione ma in questo tessuto non furono trovate cellule diploidi in divisione.Le fibrille cromosomiche sorgono apparentemente dai cromosomi prima della formazione del fuso a configurazione bipolare. Nelle divisioni poliploidi del pomodoro la formazione del fuso sembra essere multipla in origine.
Cystic fibrosis was diagnosed in the 46 year old mother of an index patient as a result of molecular genetic analysis, illustrating the need to consider the diagnosis at any age in the close relatives of patients with cystic fibrosis.
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