Mild cystic fibrosis: Genetics - extending follow-up is necessary

被引：1

作者：

Gaillard, D. ^{[1
]}

Clavel, C. ^{[2
]}

Bessaci-Kabouya, K. ^{[3
]}

Abely, M. ^{[3
]}

机构：

[1] CHU Reims, UFR Med, Serv Genet & Biol Reprod, INSERM,U903, F-51092 Reims, France

[2] CHU Reims, UFR Med, Lab Pol Bouin,Unite Biol Cellulaire, INSERM,U903, F-51092 Reims, France

[3] CHU Reims, CRCM, Serv Pediat A, INSERM,U903, F-51092 Reims, France

来源：

ARCHIVES DE PEDIATRIE | 2009年 / 16卷 / 04期

关键词：

CFTR MUTATIONS; DISEASE; GENES;

D O I：

10.1016/j.arcped.2008.12.008

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The diagnosis of mild cystic fibrosis is first suspected on mild lung disease or absence of pancreatic insufficiency and is assessed by biological analysis. The sweat test is not always conclusive. The nasal potential difference and molecular analysis of CFTR gene allow confirming diagnosis. A regular follow-up in cystic fibrosis clinical centre is essential all life long. The genotype, especially during neonatal period, cannot be used to predict individually the course of the disease. Genetic counselling must be recommended to the parents in order to propose an analysis of CFTR gene to give the appropriate genetic counselling and to consider with them which family members could be concerned, especially in the event of parental project. The research of heterozygote status in related for prenatal diagnosis is not recommended for all mutations. (c) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：387 / 390

页数：4

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