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Cystic Fibrosis
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Cystic fibrosis (CF)
              • Definitions

                • Recessive multisystem disorder caused by dysfunctional chloride ion transport across epithelial surfaces
                  • Affects respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                Selected References

                                1. D'Amico A et al: Outcome of fetal echogenic bowel: a systematic review and meta-analysis. Prenat Diagn. 41(4):391-9, 2021
                                2. Osuchukwu OO et al: Ileal atresia. StatPearls Publishing, 2020
                                3. Schlüter DK et al: Impact of cystic fibrosis on birthweight: a population based study of children in Denmark and Wales. Thorax. 74(5):447-54, 2019
                                4. Sathe M et al: Meconium ileus in cystic fibrosis. J Cyst Fibros. 16 Suppl 2:S32-9, 2017
                                5. Hill M et al: Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. 35(10):950-8, 2015
                                6. Langfelder-Schwind E et al: Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 23(1):5-15, 2014
                                7. Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
                                8. Buiter HD et al: Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy. Arch Dis Child Fetal Neonatal Ed. 98(3):F256-9, 2013
                                9. Carlyle BE et al: A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg. 47(4):772-81, 2012
                                10. Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
                                11. American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 117(4):1028-31, 2011
                                12. Shen O et al: Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome. Ultrasound Obstet Gynecol. 37(6):673-7, 2011
                                13. Chandrasekharan S et al: Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med. 12(4 Suppl):S194-211, 2010
                                14. de Becdelièvre A et al: Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet. 18(10):1166-9, 2010
                                15. Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
                                16. Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
                                17. Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
                                18. Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
                                19. Modra LJ et al: Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust. 193(3):157-60, 2010
                                20. Rosenfeld M et al: Baseline characteristics and factors associated with nutritional and pulmonary status at enrollment in the cystic fibrosis EPIC observational cohort. Pediatr Pulmonol. 45(9):934-44, 2010
                                21. Scotet V et al: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol. 203(6):592, 2010
                                22. Ong T et al: Cystic fibrosis and congenital absence of the vas deferens. GeneReviews® [Internet], 1993
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Cystic fibrosis (CF)
                                            • Definitions

                                              • Recessive multisystem disorder caused by dysfunctional chloride ion transport across epithelial surfaces
                                                • Affects respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Consider

                                                              Selected References

                                                              1. D'Amico A et al: Outcome of fetal echogenic bowel: a systematic review and meta-analysis. Prenat Diagn. 41(4):391-9, 2021
                                                              2. Osuchukwu OO et al: Ileal atresia. StatPearls Publishing, 2020
                                                              3. Schlüter DK et al: Impact of cystic fibrosis on birthweight: a population based study of children in Denmark and Wales. Thorax. 74(5):447-54, 2019
                                                              4. Sathe M et al: Meconium ileus in cystic fibrosis. J Cyst Fibros. 16 Suppl 2:S32-9, 2017
                                                              5. Hill M et al: Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. 35(10):950-8, 2015
                                                              6. Langfelder-Schwind E et al: Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 23(1):5-15, 2014
                                                              7. Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
                                                              8. Buiter HD et al: Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy. Arch Dis Child Fetal Neonatal Ed. 98(3):F256-9, 2013
                                                              9. Carlyle BE et al: A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg. 47(4):772-81, 2012
                                                              10. Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
                                                              11. American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 117(4):1028-31, 2011
                                                              12. Shen O et al: Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome. Ultrasound Obstet Gynecol. 37(6):673-7, 2011
                                                              13. Chandrasekharan S et al: Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med. 12(4 Suppl):S194-211, 2010
                                                              14. de Becdelièvre A et al: Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet. 18(10):1166-9, 2010
                                                              15. Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
                                                              16. Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
                                                              17. Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
                                                              18. Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
                                                              19. Modra LJ et al: Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust. 193(3):157-60, 2010
                                                              20. Rosenfeld M et al: Baseline characteristics and factors associated with nutritional and pulmonary status at enrollment in the cystic fibrosis EPIC observational cohort. Pediatr Pulmonol. 45(9):934-44, 2010
                                                              21. Scotet V et al: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol. 203(6):592, 2010
                                                              22. Ong T et al: Cystic fibrosis and congenital absence of the vas deferens. GeneReviews® [Internet], 1993