Cystic Fibrosis: Need for Mass Deployable Screening Methods

被引:1
作者
Sengar, Aditya Singh [1 ]
Agarwal, Anirudh [1 ]
Singh, Manish K. [2 ]
机构
[1] LNM Inst Informat Technol, Dept Elect & Commun, Jaipur 302031, Rajasthan, India
[2] LNM Inst Informat Technol, Dept Phys, Jaipur 302031, Rajasthan, India
关键词
Cystic fibrosis; Sweat chloride estimation; CFTR; Diagnosis; DIAGNOSIS; CHANNEL; CFTR; IDENTIFICATION; GENE;
D O I
10.1007/s12010-014-0991-2
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is a member of the adenosine triphosphate (ATP)-binding cassette superfamily of proteins and it functions as a chloride channel. CFTR largely controls the working of epithelial cells of the airways, the gastrointestinal tract, exocrine glands, and genitourinary system. Cystic fibrosis is responsible for severe chronic pulmonary disorders in children. Other maladies in the spectrum of this life-limiting disorder include nasal polyposis, pansinusitis, rectal prolapse, pancreatitis, cholelithiasis, insulin-dependent hyperglycemia, and cirrhosis. This review summarizes the recent state of art in the field of cystic fibrosis diagnostic methods with the help of CF literature published so far and proposes new research domains in the field of cystic fibrosis diagnosis.
引用
收藏
页码:1127 / 1136
页数:10
相关论文
共 39 条
  • [1] PURIFICATION AND FUNCTIONAL RECONSTITUTION OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR)
    BEAR, CE
    LI, CH
    KARTNER, N
    BRIDGES, RJ
    JENSEN, TJ
    RAMJEESINGH, M
    RIORDAN, JR
    [J]. CELL, 1992, 68 (04) : 809 - 818
  • [2] Cftr and ENaC ion channels mediate NaCl absorption in the mouse submandibular gland
    Catalan, Marcelo A.
    Nakamoto, Tetsuji
    Gonzalez-Begne, Mireya
    Camden, Jean M.
    Wall, Susan M.
    Clarke, Lane L.
    Melvin, James E.
    [J]. JOURNAL OF PHYSIOLOGY-LONDON, 2010, 588 (04): : 713 - 724
  • [3] Saliva specimen: A new laboratory tool for diagnostic and basic investigation
    Chiappin, Silvia
    Antonelli, Giorgia
    Gatti, Rosalba
    De Palo, Elio F.
    [J]. CLINICA CHIMICA ACTA, 2007, 383 (1-2) : 30 - 40
  • [4] Davis P B, 2001, Pediatr Rev, V22, P257, DOI 10.1542/pir.22-8-257
  • [5] Cystic fibrosis
    Davis, PB
    Drumm, M
    Konstan, MW
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1996, 154 (05) : 1229 - 1256
  • [6] Devi T. J., 2014, IOSR J DENT MED SCI, V13, P52
  • [7] Dorota S., 2013, DEV PERIOD MED, V17, P13
  • [8] Greabu Maria, 2009, J Med Life, V2, P124
  • [9] Green A., 2002, GUIDELINES PERFORMAN
  • [10] Comparison of the clinical manifestations of cystic fibrosis in black and white patients
    Hamosh, A
    FitzSimmons, SC
    Macek, M
    Knowles, MR
    Rosenstein, BJ
    Cutting, GR
    [J]. JOURNAL OF PEDIATRICS, 1998, 132 (02) : 255 - 259