Cystic fibrosis overview and update on infant care

Abstract

Cystic fibrosis is now the most common serious, autosomal-recessive disease. It has been described in every population in all parts of the world. In the US, newborn screening is available in all states. Current studies demonstrate that newborn screening, early diagnosis, early nutritional and environmental intervention, and an understanding of the pathophysiology of the disease may increase life expectancy and quality-of-life. Evidence-based guidelines encourage the use of early nutritional intervention and initiation of pulmonary therapies. The average lung function of patients with cystic fibrosis corresponds with genetic makeup, age of intervention, and environmental factors including the socioeconomic status of the patient's family. We reviewed and updated current understanding of the pathophysiology of the disease, diagnosis, and the benefits of early diagnosis via newborn screening in evaluating the nutritional status of our youngest cystic fibrosis patients; the direct correlation of malnutrition to pulmonary- and cognitive-function outcomes are reviewed and updated from literature.

Share and Cite:

Padman, R. and Passi, V. (2012) Cystic fibrosis overview and update on infant care. Open Journal of Pediatrics, 2, 187-196. doi: 10.4236/ojped.2012.23032.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Davis, P.B., Drumm, M. and Konstan, M.W. (1996) Cystic fibrosis. American Journal of Respiratory and Critical Care Medicine, 154, 1229-1256.
[2] Borowitz, D., Robinson, K.A., Rosenfeld, M., Davis, S.D., Sabadosa, K.A., Spear, S.L., Michel, S.H., Parad, R.B., White, T.B., Farrell, P.M., Marshall, B.C. and Accurso, F.J. (2009) Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. The Journal of Pediatrics, 155, S73-S93. doi:10.1016/j.jpeds.2009.09.001
[3] Grosse, S.D., Boyle, C.A., Botkin, J.R., Comeau, A.M., Kharrazi, M., Rosenfeld, M., Wilfond, B.S. and Centers for Disease Control (2004) Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recommendations and Reports: Morbidity and Mortality Weekly Report, 53, 1-36.
[4] Cystic Fibrosis Foundation (2009) Patient registry annual data report. Cystic Fibrosis Foundation, Bethesda.
[5] Cystic Fibrosis Mutation Database (2010) Statistics Page. http://www.genet.sickkids.on.ca/cftr/StatisticsPage.html
[6] Cystic Fibrosis Foundation. (2010) Carrier Testing for CF. http://www.cff.org/aboutcf/testing/geneticcarriertest/
[7] Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M. and Tsui, L.C. (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science, 245, 1073-1080. doi:10.1126/science.2570460
[8] Welsh, M.J. and Smith, A.E. (1993) Molecular mechanisms of CTFR chloride channel dysfunction in cystic fibrosis. Cell, 73, 1251-1254. doi:10.1016/0092-8674(93)90353-R
[9] Vankeerberghen, A., Cuppens, H. and Cassiman, J.J. (2002) The cystic fibrosis transmembrane conductance regulator: An intriguing protein with pleiotropic functions. Journal of Cystic Fibrosis, 1, 13-29. doi:10.1016/S1569-1993(01)00003-0
[10] The Cystic Fibrosis Genotype-Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. New England Journal of Medicine, 329, 1308-1313. doi:10.1056/NEJM199310283291804
[11] Smith, J.J., Travis, S.M., Greenberg, E.P. and Welsh, M.J. (1996) Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell, 85, 229-236. doi:10.1016/S0092-8674(00)81099-5
[12] Jayaraj, R., Barton, P.V., Newland, P., Mountford, R., Shaw, N.J., McCarthy, E., Isherwood, D.M. and Southern, K.W. (2009) A reference interval for sweat chloride in infants aged between five and six weeks of age. Annals of Clinical Biochemistry, 46, 73-78. doi:10.1258/acb.2008.008081
[13] Soultan, Z.N., Foster, M.M., Newman, N.B. and Anbar, R.D. (2008) Sweat chloride testing in infants identified as heterozygote carriers by newborn screening. The Journal of Pediatrics, 153, 857-859. doi:10.1016/j.jpeds.2008.07.054
[14] Wilmott, R.W. (1998) Making the diagnosis of cystic fibrosis. The Journal of Pediatrics, 132, 563-565. doi:10.1016/S0022-3476(98)70337-3
[15] Borowitz, D., Parad, R.B., Sharp, J.K., Sabadosa, K.A., Robinson, K.A., Rock, M.J., Farrell, P.M., Sontag, M.K., Rosenfeld, M., Davis, S.D., Marshall, B.C. and Accurso, F.J. (2009) Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. The Journal of Pediatrics, 155, S106-S116. doi:10.1016/j.jpeds.2009.09.003
[16] Smith, J.J., Travis, S.M., Greenberg, E.P. and Welsh, M.J. (1996) Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell, 85, 229-236. doi:10.1016/S0092-8674(00)81099-5
[17] Boucher, R.C. (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. The European Respiratory Journal, 23, 146-158. doi:10.1183/09031936.03.00057003
[18] Davis, P.B. (1992) Cystic fibrosis: New perceptions, new strategies. Hospital Practice (Office Ed.), 27, 79-83, 87-88, 93-94.
[19] FitzSimmons, S.C. (1993) The changing epidemiology of cystic fibrosis. The Journal of Pediatrics, 122, 1-9. doi:10.1016/S0022-3476(05)83478-X
[20] Ratjen, F. and D?ring, G. (2003) Cystic fibrosis. Lancet, 361, 681-689. doi:10.1016/S0140-6736(03)12567-6
[21] Pier, G.B. (2002) CFTR mutations and host susceptibility to Pseudomonas aeruginosa lung infection. Current Opinion in Microbiology, 5, 81-86. doi:10.1016/S1369-5274(02)00290-4
[22] Bedrossian, C.W., Greenberg, S.D., Singer, D.B., Hansen, J.J. and Rosenberg, H.S. (1976) The lung in cystic fibrosis: A quantitative study including prevalence of pathologic findings among different age groups. Human Pathology, 7, 195-204. doi:10.1016/S0046-8177(76)80023-8
[23] Khan, T.Z., Wagener, J.S., Bost, T., Martinez, J., Accurso, F.J. and Riches, D.W. (1995) Early pulmonary inflammation in infants with cystic fibrosis. American Journal of Respiratory and Critical Care Medicine, 151, 1075-1082.
[24] Bainbridge, T. and Fick, R.B. Jr. (1989) Functional importance of cystic fibrosis immunoglobulin G fragments generated by Pseudomonas aeruginosa elastase. The Journal of Laboratory and Clinical Medicine, 114, 728-733.
[25] Voynow, J.A., Fischer, B.M., Malarkey, D.E., Burch, L.H., Wong, T., Longphre, M., Ho, S.B. and Foster, W.M. (2004) Neutrophil elastase induces mucus cell metaplasia in mouse lung. American Journal of Physiology: Lung Cellular and Molecular Physiology, 287, L1293-L1302. doi:10.1152/ajplung.00140.2004
[26] De Kievit, T.R., Gillis, R., Marx, S., Brown, C. and Iglewski, B.H. (2001) Quorum-sensing genes in Pseudomonas aeruginosa biofilms: Their role and expression patterns. Applied and Environmental Microbiology, 67, 1865-1873. doi:10.1128/AEM.67.4.1865-1873.2001
[27] Kosorok, M.R., Zeng, L., West, S.E.H., Rock, M.J., Splaingard, M.L., Laxova, A., Green, C.G., Collins, J. and Farrell, P.M. (2001) Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition. Pediatric Pulmonology, 32, 277-287. doi:10.1002/ppul.2009.abs
[28] Stern, R.C., Boat, T.F., Wood, R.E., Matthews, L.W. and Doershuk, C.F. (1982) Treatment and prognosis of nasal polyps in cystic fibrosis. American Journal of Diseases of Children, 136, 1067-1070.
[29] Ramsey, B. and Richardson, M.A. (1992) Impact of sinusitis in cystic fibrosis. Journal of Allergy and Clinical Immunology, 90, 547-552. doi:10.1016/0091-6749(92)90183-3
[30] Brihaye, P., Clement, P.A.R., Dab, I. and Desprechin, B. (1994) Pathological changes of the lateral nasal wall in patients with cystic fibrosis (mucoviscidosis). International Journal of Pediatric Otorhinolaryngology, 28, 141-147. doi:10.1016/0165-5876(94)90005-1
[31] Umetsu, D.T., Moss, R.B., Lewiston, N.J., and King, V.V. (1990) Sinus disease in patients with severe cystic fibrosis: Relation to pulmonary exacerbation. Lancet, 335, 1077-1078. doi:10.1016/0140-6736(90)92642-U
[32] Hui, Y., Gaffney, R. and Crysdale, W.S. (1995) Sinusitis in patients with cystic fibrosis. European Archives of Oto-Rhino-Laryngology, 252, 191-196. doi:10.1007/BF00179910
[33] Huddleston, C.B., Bloch, J.B., Sweet, S.C., De la Morena, M., Patterson, G.A. and Mendeloff, E.N. (2002) Lung transplantation in children. Annals of Surgery, 236, 270-276. doi:10.1097/00000658-200209000-00003
[34] Schechter, M.S., Shelton, B.J., Margolis, P.A. and Fitzsimmons, S.C. (2001) The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States. American Journal of Respiratory and Critical Care Medicine, 163, 1331-1337.
[35] Collaco, J.M., Vanscoy, L., Bremer, L., McDougal, K., Blackman, S.M., Bowers, A., Naughton, K., Jennings, J., Ellen, J. and Cutting, G.R. (2008) Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. The Journal of the American Medical Association, 299, 417-424. doi:10.1001/jama.299.4.417
[36] McKone, E.F., Shao, J., Frangolias, D.D., Keener, C.L., Shephard, C.A., Farin, F.M., Tonelli, M.R., Pare, P.D., Sandford, A.J., Aitken, M.L. and Kavanagh, T.J. (2006) Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease. American Journal of Respiratory and Critical Care Medicine, 174, 415-419. doi:10.1164/rccm.200508-1281OC
[37] Cystic Fibrosis Foundation (2009) All fifty states to screen newborns for cystic fibrosis by 2010. http://www.cff.org/GetInvolved/Advocate/AdvocacyAchievements/NewsEvents/newbornscreening.cfm
[38] Konstan, M.W., Butler, S.M., Wohl, M.E., Stoddard, M., Matousek, R., Wagener, J.S., Johnson, C.A., Morgan, W.J. and Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis (2003) Growth and nutritional indexes in early life predict pulmonary function in cystic fibrosis. The Journal of Pediatrics, 142, 624-630. doi:10.1067/mpd.2003.152
[39] Farrell, P.M., Kosorok, M.R., Laxova, A., Shen, G.H., Koscik, R.E., Bruns, W.T., Splaingard, M. and Mischler, E.H. for the Wisconsin Cystic Fibrosis Neonatal Screening Study Group (1997) Nutritional benefits of neonatal screening for cystic fibrosis. The New England Journal of Medicine, 337, 963-969. doi:10.1056/NEJM199710023371403
[40] Koscik, R.L, Farrell, P.M., Kosorok, M.R., Zaremba, K.M., Laxova, A., Lai, H.-C., Douglas, J.A., Rock, M.J. and Splaingard, M.L. (2004) Cognitive function of children with cystic fibrosis: Deleterious effect of early malnutrition. Pediatrics, 113, 1549-1558. doi:10.1542/peds.113.6.1549
[41] Long, F.R., Williams, R.S. and Castile, R.G. (2004) Structural airway abnormalities in infants and young children with cystic fibrosis. The Journal of Pediatrics, 144, 154-161. doi:10.1016/j.jpeds.2003.09.026
[42] Sly, P.D., Brennan, S., Gangell, C., De Klerk, N., Murray, C., Mott, L., Stick, S.M., Robinson, P.J., Robertson, C.F., Ranganathan, S.C. and Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST-CF) (2009) Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening. American Journal of Respiratory and Critical Care Medicine, 180, 146-152. doi:10.1164/rccm.200901-0069OC
[43] Padman, R., McColley, S.A., Miller, D.P., Konstan, M.W., Morgan, W.J., Schechter, M.S., Ren, C.L. and Wagener, J.S. for the Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis (2007) Infant care patterns at epidemiologic study of cystic fibrosis sites that achieve superior childhood lung function. Pediatrics, 119, e531-e537. doi:10.1542/peds.2006-1414
[44] Padman, R., Werk, L.N., Ramirez-Garnica, G., Ye, G. and Nathanson, I. (2008) Association between practice patterns and body mass index percentile in infants and young children with cystic fibrosis. Journal of Cystic Fibrosis, 7, 385-390. doi:10.1016/j.jcf.2008.01.005
[45] Nasr, S.Z., Kuhns, L.R., Brown, R.W., Hurwitz, M.E., Sanders, G.M. and Strouse, P.J. (2001) Use of computerized tomography and chest x-rays in evaluating efficacy of aerosolized recombinant human DNase in cystic fibrosis patients younger than age 5 years: A preliminary study. Pediatric Pulmonology, 31, 377-382. doi:10.1002/ppul.1061
[46] Ratjen, F., Hartog, C.-M., Paul, K., Wermelt, J. and Braun, J. (2002) Matrix metalloproteases in BAL fluid of patients with cystic fibrosis and their modulation by treatment with dornase alpha. Thorax, 57, 930-934. doi:10.1136/thorax.57.11.930
[47] Van der Doef, H.P.J., Arets, H.G.M., Froeling, S.P., Westers, P. and Houwen, R.H.J. (2009) Gastric acid inhibition for fat malabsorption or gastroesophageal reflux disease in cystic fibrosis: Longitudinal effect on bacterial colonization and pulmonary function. The Journal of Pediatrics, 155, 629-633. doi:10.1016/j.jpeds.2009.06.040

Copyright © 2024 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.