Abstract

Case Report

Cystic fibrosis and congenital adrenal hyperplasia: A rare occurrence with diagnostic dilemmas, similarities and contradictions

Afshin Rezaeifar*, Mohammad Nabavi, Parisa Rezaeifar, Morteza Fallahpour, Saba Arshi, Mohammad Hassan Bemanian and Sima Shokri

Published: 20 October, 2020 | Volume 4 - Issue 1 | Pages: 018-020

Cystic fibrosis (CF) is a hereditary syndrome composed of exocrine gland dysfunction involving multiple systems which if untreated may result in chronic respiratory infections, pancreatic enzyme deficiency and failure to thrive. The association between CF and other inherited diseases or congenital anomalies is rare. We describe a rare case of CF with concomitant congenital adrenal hyperplasia (CAH). 21- Hydroxylase deficiency accounts for most CAH cases. Varity in clinical phenotypes depends on the amount of enzymatic activity which in turn depends on different combination of gene mutations. The genes of CAH and CF are located in different locations. The chance of these diseases coexisting in our patient would be a rare combination. However, such a case will be more frequent in our population than others because of consanguineous marriage and common ancestors. There are diagnostic difficulties, similarities and contradictions between two diseases and they are pointed out.

Read Full Article HTML DOI: 10.29328/journal.aaai.1001021 Cite this Article Read Full Article PDF

Keywords:

Cystic fibrosis; Congenital adrenal hyperplasia; Sweat test

References

  1. Smyth AR, Bell SC, Bojcin S, Bryon M, Duff A, et al. European cystic fibrosis society standards of care: best practice guidelines. J Cystic Fibrosis. 2014; 13: S23-42. PubMed: https://pubmed.ncbi.nlm.nih.gov/24856775/
  2. Davis PB. Cystic fibrosis since 1938. Am J Respiratory Critical Care Med. 2006; 173: 475-482. PubMed: https://pubmed.ncbi.nlm.nih.gov/16126935/
  3. Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. European Respiratory Review. 2013; 22: 58-65. PubMed: https://pubmed.ncbi.nlm.nih.gov/23457166/
  4. Aghamohammadi A, Keivanfar M, Navaei S, Shirzadi R, Masiha F, et al. First cystic fibrosis patient registry annual data report-cystic fibrosis foundation of Iran. Acta Medica Iranica. 2019; 57: 33-41.
  5. Rabbani B, Mahdieh N, Ashtiani MT, Akbari MT, Rabbani A. Molecular diagnosis of congenital adrenal hyperplasia in Iran: focusing on CYP21A2 gene. Iranian J Pediatrics. 2011; 21: 139-150. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446151/
  6. Childs B, Grumbach MM, Van Wyk JJ. Virilizing adrenal hyperplasia; a genetic and hormonal study. J Clini Investig. 1956; 35: 213-222. PubMed: https://pubmed.ncbi.nlm.nih.gov/13286340/
  7. Banjar HH. Cystic fibrosis: presentation with other diseases, the experience in Saudi Arabia. J Cystic Fibrosis. 2003; 2: 155-159. PubMed: https://pubmed.ncbi.nlm.nih.gov/15463866/
  8. Rusakow LS, Guarín M, Lyon RM, Splaingard ML. Syringomyelia and chiari malformation presenting as scoliosis in cystic fibrosis. Pediatric Pulmonol. 1995; 19: 317-318. PubMed: https://pubmed.ncbi.nlm.nih.gov/7567208/
  9. Rizzari C, Conter V, Jankovic M, D'Angelo P, Masera G, et al. Acute lymphoblastic leukaemia in a child with cystic fibrosis. Haematologica. 1992; 77: 427-429. PubMed: https://pubmed.ncbi.nlm.nih.gov/1483594/
  10. Schöni MH, Maisonneuve P, Schöni-Affolter F, Lowenfels AB. Cancer risk in patients with cystic fibrosis: The European data. CF/CSG Group. J Royal Society Med. 1996; 89(Suppl 27): 38. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1295624/
  11. Pollack IF, Hamilton RL, Fitz C, Orenstein DM. An intrasylvian “fibroma” in a child with cystic fibrosis: case report. Neurosurgery. 2000; 46: 744-748.
  12. Mascaró JM, Ferrando J, Bombi JA, Lambruschini N. Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings. Arc Dermatol. 1995; 131: 454-458. PubMed: https://pubmed.ncbi.nlm.nih.gov/7726589/
  13. Kakish KS. Cystic fibrosis and infantile hypertrophic pyloric stenosis: Is there an association? Pediatric pulmonology. 2002; 33: 404-405.
  14. Chang J, Kan Y. Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation. The Lancet. 1981; 318: 1127-1129. PubMed: https://pubmed.ncbi.nlm.nih.gov/6118575/
  15. Nielsen Oh, Haahr J. Adrenogenital Syndrome and Cystic Fibrosis. Acta Pædiatrica. 1982; 71: 339-341. PubMed: https://pubmed.ncbi.nlm.nih.gov/7136645/
  16. Dowton SB, Pincott S, Demmer L. Respiratory complications of Ehlers‐Danlos syndrome type IV. Clin Genet. 1996; 50: 510-514. PubMed: https://pubmed.ncbi.nlm.nih.gov/9147885/
  17. Jarisch A, Giunta C, Zielen S, König R, Steinmann B. Sibs affected with both Ehlers‐Danlos syndrome type VI and cystic fibrosis. Am J Med Genet. 1998; 78: 455-460. PubMed: https://pubmed.ncbi.nlm.nih.gov/9714013/
  18. Aguiar C, Correia-Costa L, Eden P, Guedes-Vaz L. Cystic fibrosis and beckwith-wiedemann syndrome: A case report. J Clin Med Res. 2015; 7: 186-188. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285066/
  19. Ivanov M, Matsvay A, Glazova O, Krasovskiy S, Usacheva M, et al. Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis. BMC Med Genom. 2018; 11: 13. PubMed: https://pubmed.ncbi.nlm.nih.gov/29504914/
  20. Lamm LU, Thorsen IL, Petersen GB, Jorgensen J, Henningsen K, et al. Data on the HL-A linkage group. Ann Human Genetics. 1975; 38: 383-.390.

Figures:

Figure 1

Figure 1

Similar Articles

Recently Viewed

  • Environmental Factors Affecting the Concentration of DNA in Blood and Saliva Stains: A Review
    Divya Khorwal*, GK Mathur, Umema Ahmed and SS Daga Divya Khorwal*, GK Mathur, Umema Ahmed, SS Daga. Environmental Factors Affecting the Concentration of DNA in Blood and Saliva Stains: A Review. J Forensic Sci Res. 2024: doi: 10.29328/journal.jfsr.1001057; 8: 009-015
  • Why Down-managing Backlog Forensic DNA Case Entries Matters
    JH Smith* and JS Horne JH Smith*, JS Horne. Why Down-managing Backlog Forensic DNA Case Entries Matters. J Forensic Sci Res. 2024: doi: 10.29328/journal.jfsr.1001056; 8: 001-008
  • Scintigraphic non-invasive diagnosis of amyloid cardiomyopathy
    Laroussi Mohamed-Salem*, Tomás E Rodríguez-Locarno, Tatiana Moreno-Monsalve, Isabel Castellón-Sánchez, José F Contreras-Gutiérrez and Antonia Claver-Valderas Laroussi Mohamed-Salem*,Tomás E Rodríguez-Locarno,Tatiana Moreno-Monsalve,Isabel Castellón-Sánchez,José F Contreras-Gutiérrez ,Antonia Claver-Valderas. Scintigraphic non-invasive diagnosis of amyloid cardiomyopathy. J Cardiol Cardiovasc Med. 2019: doi: 10.29328/journal.jccm.1001058; 4: 156-158
  • Anomalies of coronary artery origin: About two cases
    Dioum M*, Sarr EM, Manga S, Mingou JS, Diack A, Diop AD, Bindia D, Diagne PA, Sarr AN and Diop IB Dioum M*,Sarr EM,Manga S,Mingou JS,Diack A,Diop AD,Bindia D,Diagne PA,Sarr AN,Diop IB. Anomalies of coronary artery origin: About two cases. J Cardiol Cardiovasc Med. 2019: doi: 10.29328/journal.jccm.1001051; 4: 117-119
  • Late discover of a traumatic cardiac injury: Case report
    Benlafqih C, Bouhdadi H*, Bakkali A, Rhissassi J, Sayah R and Laaroussi M Benlafqih C,Bouhdadi H*,Bakkali A,Rhissassi J,Sayah R,Laaroussi M. Late discover of a traumatic cardiac injury: Case report. J Cardiol Cardiovasc Med. 2019: doi: 10.29328/journal.jccm.1001048; 4: 100-102

Read More

Most Viewed

Read More

Help ?