Newborn Screening for Cystic Fibrosis

被引:0
作者
Jack K. Sharp
Michael J. Rock
机构
[1] The State University of New York at Buffalo,Pediatric Pulmonology, Department of Pediatrics, The Women and Children’s Hospital of Buffalo
[2] Clinical Sciences Center,undefined
来源
Clinical Reviews in Allergy & Immunology | 2008年 / 35卷
关键词
Newborn screening; Cystic fibrosis; Immunoreactive trypsinogen (IRT); Cystic fibrosis transmembrane regulator (CFTR) mutation; Nutrition; Pulmonary disease;
D O I
暂无
中图分类号
学科分类号
摘要
Newborn screening (NBS) for cystic fibrosis (CF) has evolved considerably from its beginnings. We review the early history of NBS in the USA and the evolution of CF NBS from its conception in observational studies, to the development of mass-screening methodology in the 1970s, and to its early applications in the USA and other countries. We review the development of current CF NBS algorithms, particularly the development of those used in the Wisconsin randomized controlled trial, and discuss the comparative utility of different algorithms. We also discuss the identified nutritional and respiratory benefits of CF NBS, discuss treatment strategies for newborns identified with CF, and also discuss opportunities for slowing the progression of this disease.
引用
收藏
页码:107 / 115
页数:8
相关论文
共 338 条
  • [1] Allen DB(1996)Newborn screening: principles and practice Adv Pediatr 43 231-270
  • [2] Farrell PM(1996)Dehydration deaths in infants and young children Am J Forensic Med Pathol 17 73-78
  • [3] Whitehead FJ(1993)Cystic fibrosis presenting as kwashiorkor with florid skin rash Arch Dis Child 69 446-448
  • [4] Couper RT(1994)Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for neonatal screening Clin Pediatr (Phila) 33 2-7
  • [5] Moore L(2002)Acrodermatitis enteropathica-like eruption as the presenting sign of cystic fibrosis-case report and review of the literature Eur J Pediatr 161 475-478
  • [6] Bourne AJ(2001)Cystic fibrosis presenting with intracerebral hemorrhage Lancet 358 1960-100
  • [7] Byard RW(2002) and other predictors of mortality and morbidity in young children with cystic fibrosis Pediatr Pulmonol 34 91-15
  • [8] Phillips RJ(1992)The origin of newborn screening Screening 1 5-343
  • [9] Crock CM(1970)Studies in cystic fibrosis: report of 130 patients diagnosed under 3 months of age over a 20-year period Pediatrics 46 335-975
  • [10] Dillon MJ(1977)The effect of early diagnosis and treatment in cystic fibrosis: a seven-year study of 16 sibling pairs Am J Dis Child 131 973-38