medigraphic.com
Órgano Oficial de la Asociación Mexicana de Hepatología

2015, Número 6

<< Anterior Siguiente >>

Ann Hepatol 2015; 14 (6)


Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease

Praticò AD, Praticò ER, Rotolo N, Salafia S, Franzonello C, Leonardi S

Idioma: Ingles.
Referencias bibliográficas: 20
Paginas: 933-936
Archivo PDF: 75.23 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Lamireau T, Monnereau S, Martin S, Marcotte JE, Winnock M, Alvarez F. Epidemiology of liver disease in cystic fibrosis: a longitudinal study. J Hepatol 2004; 41: 920-5.

  2. Leeuwen L, Fitzgerald DA, Gaskin KJ. Liver Disease in Cystic Fibrosis. Paediatr Respir Rev 2013.

  3. Flass T, Narkewicz MR. Cirrhosis and other liver disease in cystic fibrosis. J Cyst Fibros 2012; 19. pii: S1569- 1993(12)00227-5.

  4. Parisi GF, Di Dio G, Franzonello C, Gennaro A, Rotolo N, Lionetti E, Leonardi S. Liver Involvement in Cystic Fibrosis. Hepat Mon 2013; 13:e11215.

  5. Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, Lizzi N, et al. Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype. Am J Med Genet 2001; 98: 294-7

  6. Nguyen TT, Thia LP, Hoo AF, Bush A, Aurora P, Wade A, Chudleigh J, et al; on behalf of the London Cystic Fibrosis Collaboration (LCFC). Evolution of lung function during the first year of life in newborn screened cystic fibrosis infants. Thorax 2013.

  7. Schram CA. Atypical cystic fibrosis: identification in the primary care setting. Can Fam Physician 2012; 58: 1341-5.

  8. Taylor-Cousar JL, Zariwala MA, Burch LH, Pace RG, Drumm ML, Calloway H, Fan H, et al; Gene Modifier Study Group. Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. PLoS One 2009; 4: e4270.

  9. Nikolic A, Divac A, Stankovic M, Dinic J, Tomic B, Ljujic M. Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population. Genetika 2006; 42: 996-8

  10. Ni WH, Jiang L, Fei QJ, Jin JY, Yang X, Huang XF. The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. Asian J Androl 2012; 14: 687-90.

  11. Sharp JK, Rock MJ. Newborn screening for cystic fibrosis. Clin Rev Allergy Immunol 2008; 35: 107-15

  12. Millson A, Pont-Kingdon G, Page S, Lyon E. Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. Clin Chem 2005; 51: 1619-23

  13. Boudaya M, Fredj SH, Haj RB, Khrouf M, Bouker A, Halouani L, Messaoud T. Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa. Ann Hum Biol 2012; 39: 76-9.

  14. Tamburino L, Guglielmino A, Venti E, Chamayou S. Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. Reprod Biomed Online 2008; 17: 27-35.

  15. Cottin V, Thibout Y, Bey-Omar F, Durieu I, Laoust L, Morel Y, Cordier JF. Late CF caused by homozygous IVS8-5T CFTR polymorphism. Thorax 2005; 60: 974-5.

  16. Keiles S, Koepke R, Parad R, Kharrazi M; California Cystic Fibrosis Newborn Screening Consortium. Impact of IVS8- (TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros 2012; 11: 257-60A.

  17. Milosevic K, Nikolic A, Divac Rankov A, Ljujic M, Nestorovic B, Radojkovic D. Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. Pediatr Allergy Immunol Pulmonol 2013; 26: 93-8.

  18. Montagnani M, Cazzato S, Mutignani M, Cevenini M, Guidetti E, Zvi IB, Aldini R, et al. A patient with pancreas divisum, recurrent acute pancreatitis, and homozygosity for the cystic fibrosis transmembrane regulator-associated protein 5T allele. Clin Gastroenterol Hepatol 2013; 11: 579-81.

  19. Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon RH, et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am J Respir Crit Care Med 2000; 162: 1919-24.

  20. Stankovic M, Nikolic A, Divac A, Tomovic A, Petrovic- Stanojevic N, Andjelic M, Dopudja-Pantic V, et al. The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population. Genet Test 2008; 12: 357-62.




2020     |     www.medigraphic.com