表型/基因型相关性与囊性纤维化相关糖尿病（意大利多中心研究）

Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study).

作者信息

Cotellessa M, Minicucci L, Diana M C, Prigione F, Di Febbraro L, Gagliardini R, Manca A, Battistini F, Taccetti G, Magazzù G, Padoan R, Pizzamiglio G, Raia V, Iapichino L, Cardella F, Grinzich G, Lucidi V, Tuccio G, Bignamini E, Salvatore D, Lorini R

机构信息

CF Centre, Department of Pediatrics, University of Genoa, G. Gaslini Institute, Italy.

出版信息

J Pediatr Endocrinol Metab. 2000 Sep-Oct;13(8):1087-93. doi: 10.1515/jpem.2000.13.8.1087.

DOI:10.1515/jpem.2000.13.8.1087

PMID:11085186

Abstract

BACKGROUND

A genotype/phenotype correlation between early onset cystic fibrosis related diabetes (CFRD) and the N1303K mutation of the CF gene was previously identified in a small series of 28 CFRD patients, out of 313 CF patients.

PATIENTS AND METHODS

In order to confirm the observation, data of 141 CFRD patients out of 1,229 CF patients attending 14 Italian CF centers were collected. All patients were older than 10 years and had been genotyped.

RESULTS

DeltaF508 was the most frequent mutation (147/282 alleles: 52%) and N1303K the second most frequent mutation (18/282 alleles: 6.3%) in CFRD patients, without significant difference as compared with CF patients without DM (52% vs 48.6% and 6.3% vs 5.1%, respectively). W1282X was the third most frequent mutation in CFRD patients, more frequent than in CF patients without DM (5.3% vs 2%; p<0.001).

CONCLUSIONS

Unlike the previous study, we did not find a higher frequency of the N1303K mutation in CFRD patients; moreover, data from this large CF series showed a significant correlation between the W1282X mutation and CFRD.

摘要

背景

先前在313例囊性纤维化（CF）患者中的28例早发性囊性纤维化相关糖尿病（CFRD）患者的小样本研究中，发现CF基因的N1303K突变与CFRD之间存在基因型/表型相关性。

患者与方法

为了证实该观察结果，收集了来自14个意大利CF中心的1229例CF患者中141例CFRD患者的数据。所有患者年龄均超过10岁且已进行基因分型。

结果

在CFRD患者中，DeltaF508是最常见的突变（147/282个等位基因：52%），N1303K是第二常见的突变（18/282个等位基因：6.3%），与无糖尿病的CF患者相比无显著差异（分别为52%对48.6%和6.3%对5.1%）。W1282X是CFRD患者中第三常见的突变，比无糖尿病的CF患者更常见（5.3%对2%；p<0.001）。