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Classical cystic fibrosis

MedGen UID:
1618555
•Concept ID:
C4546076
•
Disease or Syndrome
SNOMED CT: Classical cystic fibrosis (762269004)

Professional guidelines

PubMed

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M
J Cyst Fibros 2016 Nov;15(6):752-758. Epub 2016 Jul 22 doi: 10.1016/j.jcf.2016.07.002. PMID: 27461140
Metformin treatment of diabetes mellitus increases the risk for pancreatitis in patients bearing the CFTR-mutation S573C.
Kongsuphol P, Cassidy D, Romeiras F, Schreiber R, Mehta A, Kunzelmann K
Cell Physiol Biochem 2010;25(4-5):389-96. Epub 2010 Mar 23 doi: 10.1159/000303043. PMID: 20332619
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Scotet V, Audrézet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, Moisan-Petit V, Storni V, Férec C
Pediatrics 2006 Nov;118(5):e1523-9. Epub 2006 Oct 2 doi: 10.1542/peds.2005-3161. PMID: 17015492

Recent clinical studies

Etiology

Cystic fibrosis.
Shteinberg M, Haq IJ, Polineni D, Davies JC
Lancet 2021 Jun 5;397(10290):2195-2211. doi: 10.1016/S0140-6736(20)32542-3. PMID: 34090606
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M
J Cyst Fibros 2016 Nov;15(6):752-758. Epub 2016 Jul 22 doi: 10.1016/j.jcf.2016.07.002. PMID: 27461140
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
Martinez B, Heller M, Gaitch N, Hubert D, Burgel PR, Levy P, Girodon E, Bienvenu T
J Hum Genet 2014 Apr;59(4):206-10. Epub 2014 Jan 23 doi: 10.1038/jhg.2014.2. PMID: 24451227
Clinical profile of cystic fibrosis. Atypical presentation.
Najada AS, Dahabreh MM
Saudi Med J 2010 Feb;31(2):185-8. PMID: 20174736
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations.
Shin D, Gilbert F, Goldstein M, Schlegel PN
J Urol 1997 Nov;158(5):1794-8; discussion 1798-9. doi: 10.1016/s0022-5347(01)64131-4. PMID: 9334604

Diagnosis

Cystic fibrosis.
Shteinberg M, Haq IJ, Polineni D, Davies JC
Lancet 2021 Jun 5;397(10290):2195-2211. doi: 10.1016/S0140-6736(20)32542-3. PMID: 34090606
Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.
Sohn YB, Ko JM, Jang JY, Seong MW, Park SS, Suh DI, Ko JS, Shin CH
Eur J Med Genet 2019 Aug;62(8):103681. Epub 2019 May 25 doi: 10.1016/j.ejmg.2019.103681. PMID: 31136843
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M
J Cyst Fibros 2016 Nov;15(6):752-758. Epub 2016 Jul 22 doi: 10.1016/j.jcf.2016.07.002. PMID: 27461140
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Scotet V, Audrézet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, Moisan-Petit V, Storni V, Férec C
Pediatrics 2006 Nov;118(5):e1523-9. Epub 2006 Oct 2 doi: 10.1542/peds.2005-3161. PMID: 17015492
Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
Poller W, Faber JP, Scholz S, Olek K, Müller KM
Klin Wochenschr 1991 Sep 16;69(14):657-63. doi: 10.1007/BF01649427. PMID: 1749205

Therapy

Cystic fibrosis.
Shteinberg M, Haq IJ, Polineni D, Davies JC
Lancet 2021 Jun 5;397(10290):2195-2211. doi: 10.1016/S0140-6736(20)32542-3. PMID: 34090606
Metformin treatment of diabetes mellitus increases the risk for pancreatitis in patients bearing the CFTR-mutation S573C.
Kongsuphol P, Cassidy D, Romeiras F, Schreiber R, Mehta A, Kunzelmann K
Cell Physiol Biochem 2010;25(4-5):389-96. Epub 2010 Mar 23 doi: 10.1159/000303043. PMID: 20332619

Prognosis

The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.
Marion H, Natacha G, Brigitte M, François C, Michel R, Corinne T, Emmanuelle G, Thierry B
J Cyst Fibros 2015 May;14(3):305-9. Epub 2014 Nov 28 doi: 10.1016/j.jcf.2014.11.001. PMID: 25443471
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations.
Shin D, Gilbert F, Goldstein M, Schlegel PN
J Urol 1997 Nov;158(5):1794-8; discussion 1798-9. doi: 10.1016/s0022-5347(01)64131-4. PMID: 9334604
Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
Poller W, Faber JP, Scholz S, Olek K, Müller KM
Klin Wochenschr 1991 Sep 16;69(14):657-63. doi: 10.1007/BF01649427. PMID: 1749205

Clinical prediction guides

Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Scotet V, Audrézet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, Moisan-Petit V, Storni V, Férec C
Pediatrics 2006 Nov;118(5):e1523-9. Epub 2006 Oct 2 doi: 10.1542/peds.2005-3161. PMID: 17015492
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations.
Shin D, Gilbert F, Goldstein M, Schlegel PN
J Urol 1997 Nov;158(5):1794-8; discussion 1798-9. doi: 10.1016/s0022-5347(01)64131-4. PMID: 9334604
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
Mak V, Jarvi KA, Zielenski J, Durie P, Tsui LC
Hum Mol Genet 1997 Nov;6(12):2099-107. doi: 10.1093/hmg/6.12.2099. PMID: 9328474

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