New clinical diagnostic procedures for cystic fibrosis in Europe

被引：86

作者：

De Boeck, K. ^{[1
]}

Derichs, N. ^{[2
]}

Fajac, I. ^{[3
]}

de Jonge, H. R. ^{[4
]}

Bronsveld, I. ^{[5
]}

Sermet, I. ^{[3
]}

Vermeulen, F. ^{[1
]}

Sheppard, D. N. ^{[6
]}

Cuppens, H. ^{[1
]}

Hug, M. ^{[7
]}

Melotti, P. ^{[8
]}

Middleton, P. G. ^{[9
]}

Wilschanski, M. ^{[10
]}

机构：

[1] Univ Hosp Leuven, B-3000 Louvain, Belgium

[2] Hannover Med Sch, D-30625 Hannover, Germany

[3] Univ Paris 05, F-75014 Paris, France

[4] Erasmus MC, NL-3000 CA Rotterdam, Netherlands

[5] Univ Med Ctr Utrecht, NL-3508 AB Utrecht, Netherlands

[6] Univ Bristol, Sch Physiol & Pharmacol, Bristol BS8 1TD, Avon, England

[7] Univ Med Ctr Freiburg, D-79106 Freiburg, Germany

[8] Osped Civile, Vemna CF Ctr, I-37126 Verona, Italy

[9] Univ Sydney, Westmead, NSW 2145, Australia

[10] Hadassah Univ Hosp, IL-91120 Jerusalem, Israel

来源：

JOURNAL OF CYSTIC FIBROSIS | 2011年 / 10卷

关键词：

Electrophysiology; Nasal potential difference; Intestinal current measurement; genetic testing; NASAL POTENTIAL DIFFERENCE; RESIDUAL CHLORIDE SECRETION; AIRWAY ION-TRANSPORT; CONGENITAL BILATERAL ABSENCE; DELTA-F508 HOMOZYGOUS TWINS; EPITHELIAL SODIUM-CHANNEL; NATIVE HUMAN COLON; DISEASE SEVERITY; RECTAL BIOPSIES; REGULATOR GENE;

D O I：

10.1016/S1569-1993(11)60009-X

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

In the majority of cases, there is no difficulty in diagnosing Cystic Fibrosis (CF). However, there may be wide variation in signs and symptoms between individuals which encourage the scientific community to constantly improve the diagnostic tests available and develop better methods to come to a final diagnosis in patients with milder phenotypes. This paper is the result of discussions held at meetings of the European Cystic Fibrosis Society Diagnostic Network supported by EuroCareCF. CFTR bioassays in the nasal epithelium (nasal potential difference measurements) and the rectal mucosa (intestinal current measurements) are discussed in detail including efforts to standardize the techniques across Europe. New approaches to evaluate the sweat gland, future of genetic testing and methods on the horizon like CFTR expression in human leucocytes and erythrocytes are discussed briefly. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：S53 / S66

页数：14

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