Recommendations for the classification of diseases as CFTR-related disorders

被引：302

作者：

Bombieri, C. ^{[1
]}

Claustres, M. ^{[2
,3
]}

De Boeck, K. ^{[4
]}

Derichs, N. ^{[5
]}

Dodge, J. ^{[6
]}

Girodon, E. ^{[7
,8
]}

Sermet, I. ^{[9
]}

Schwarz, M. ^{[10
]}

Tzetis, M. ^{[11
]}

Wilschanski, M. ^{[12
,13
]}

Bareil, C. ^{[2
,3
]}

Bilton, D. ^{[14
]}

Castellani, C. ^{[15
]}

Cuppens, H. ^{[16
]}

Cutting, G. R. ^{[17
]}

Drevinek, P. ^{[18
,19
]}

Farrell, P. ^{[20
]}

Elborn, J. S. ^{[21
]}

Jarvi, K. ^{[22
]}

Kerem, B. ^{[23
]}

Kerem, E. ^{[24
]}

Knowles, M. ^{[25
]}

Macek, M., Jr. ^{[26
]}

Munck, A. ^{[27
]}

Radojkovic, D. ^{[28
]}

Seia, M. ^{[29
]}

Sheppard, D. N. ^{[30
]}

Southern, K. W. ^{[31
]}

Stuhrmann, M. ^{[32
]}

Tullis, E. ^{[33
,34
]}

Zielenski, J. ^{[35
]}

Pignatti, P. F. ^{[1
]}

Ferec, C. ^{[36
]}

机构：

[1] Univ Verona, Dept Life & Reprod Sci, Sect Biol & Genet, I-37134 Verona, Italy

[2] CHU Montpellier, Lab Genet Mol, Montpellier, France

[3] IURC, INSERM, U827, Montpellier, France

[4] Univ Hosp, Dept Pediat Pediat Pulmonol, Louvain, Belgium

[5] Hannover Med Sch, CF Ctr, D-30623 Hannover, Germany

[6] Univ Wales Swansea, Dept Child Hlth, Singleton Hosp, Swansea SA2 8QA, W Glam, Wales

[7] Grp Hosp Henri Mondor, APHP, Serv Biochim Genet, Creteil, France

[8] Hop Henri Mondor, INSERM, Equipe 11, U955, F-94010 Creteil, France

[9] Univ Paris 05, Hop Necker, F-75015 Paris, France

[10] St Marys Hosp, Reg Mol Genet Serv, Manchester M13 0JH, Lancs, England

[11] Univ Athens, Dept Med Genet, St Sophias Childrens Hosp, Athens, Greece

[12] Hadassah Univ Hosp, Pediat Gastroenterol Unit, IL-91120 Jerusalem, Israel

[13] Hadassah Univ Hosp, Cyst Fibrosis Ctr, IL-91120 Jerusalem, Israel

[14] Royal Brompton Hosp, London SW3 6LY, England

[15] Univ Integrata Verona, Verona Cyst Fibrosis Ctr, Azienda Osped, Verona, Italy

[16] Katholieke Univ Leuven, Dept Human Genet, B-3000 Louvain, Belgium

[17] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Sch Med, Baltimore, MD 21287 USA

[18] Charles Univ Prague, Dept Pediat, Fac Med 2, CZ-15006 Prague, Czech Republic

[19] Univ Hosp Motol, CZ-15006 Prague, Czech Republic

[20] Univ Wisconsin, Dept Pediat & Populat Hlth Sci, Sch Med & Publ Hlth, Madison, WI USA

[21] Queens Univ, Sch Med Dent & Biomed Sci, Belfast BT7 1NN, Antrim, North Ireland

[22] Univ Toronto, Mt Sinai Hosp, Div Urol, Toronto, ON M5G 1X5, Canada

[23] Hebrew Univ Jerusalem, Dept Genet, Inst Life Sci, IL-91904 Jerusalem, Israel

[24] Hadassah Hebrew Univ, Dept Pediat & Pediat Pulmonol, Med Ctr, Jerusalem, Israel

[25] Univ N Carolina, Cyst Fibrosis Pulm Res & Treatment Centerr, Chapel Hill, NC 27599 USA

[26] Charles Univ Prague, Dept Biol & Med Genet, Fac Med 2, CZ-15006 Prague, Czech Republic

[27] Univ Hosp Robert Debre, AP HP, Dept Pediat Gastroenterol & Nutr, CF Ctr, F-75019 Paris, France

[28] Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade, Serbia

[29] Osped Maggiore Policlin, Lab Genet Med, Fdn IRCCS Ca Granda, Milan, Italy

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

[31] Univ Liverpool, Inst Child Hlth, Alder Hey Childrens Hosp, Liverpool L12 2AP, Merseyside, England

[32] Hannover Med Sch, Inst Human Genet, D-3000 Hannover, Germany

[33] Univ Toronto, Adult Cyst Fibrosis Ctr, St Michaels Hosp, Toronto, ON M5S 1A1, Canada

[34] Univ Toronto, Div Respirol, Dept Med, Toronto, ON M5S 1A1, Canada

[35] Hosp Sick Children, Genet & Genom Biol Program, Toronto, ON M5G 1X8, Canada

[36] CHU Brest, Genet Mol Genet Epidemiol INSERM U613, Lab Mol Genet, F-29200 Brest, France

来源：

JOURNAL OF CYSTIC FIBROSIS | 2011年 / 10卷

关键词：

CFTR-related disorders; CBAVD (Congenital Bilateral Absence of Vas Deferens); Pancreatitis; Bronchiectasis; Functional tests; NPD (Nasal Potential Difference); ICM (Intestinal Current Measurement); FIBROSIS-TRANSMEMBRANE-CONDUCTANCE; CONGENITAL BILATERAL ABSENCE; REGULATOR GENE-MUTATIONS; IDIOPATHIC CHRONIC-PANCREATITIS; RESIDUAL CHLORIDE SECRETION; NASAL POTENTIAL DIFFERENCE; CATIONIC TRYPSINOGEN GENE; ALCOHOLIC CHRONIC-PANCREATITIS; DELTA-F508 HOMOZYGOUS TWINS; ION-CHANNEL FUNCTION;

D O I：

10.1016/S1569-1993(11)60014-3

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops. A CFTR-RD may be defined as "a clinical entity associated with CFTR dysfunction that does not fulfil diagnostic criteria for CF". The utility of sweat testing, mutation analysis, nasal potential difference, and/or intestinal current measurement for the differential diagnosis of CF and CFTR-RD is discussed. Algorithms which use genetic and functional diagnostic tests to distinguish CF and CFTR-RDs are presented. According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：S86 / S102

页数：17

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