Follow Us:Respiratio 2019; 9 (1-2): 145-149
EPIDEMIOLOŠKE I KLINIČKE KARAKTERISTIKE CISTIČNE FIBROZEU ODRASLOJ DOBI
Olivera Ljuboja, Dragana Malčić Zanić
Review Article
Revijalni članak
Sažetak
Danas zahvaljujući identifikaciji mutacija koje dovode do cistične fibroze, nastanka bolesti,
omogućeno je istraživanje o povezanosti vrsta mutacije (genotip) i njihove kliničke ekspresije (fenotip)
kod oboljelih. Uprkos dijagnostičkim kriterijima, dijagnoza CF-a nije uvijek laka, pogotovo u odrasloj
dobi kad se bolest može prezentovati varijabilnim fenotipom. Danas djeca rođena sa cističnom fibrozom
doživljavaju odraslu dob, sa očekivanom medijanom preživljavanja od 50 godina. Produžavanje životnog
vijeka u odraslu dob suočava bolesnike s novim terapijskim potrebama, a doktore s novim
prezentacijama i komplikacijama bolesti. Sa prelaskom bolesnika iz dječije u odraslu dob javljaju se
nova klinička stanja i komplikacije bolesti koje zahtijevaju poseban oblik zbrinjavanja i pružanja
specifične zdravstvene njege koju više nije moguće pružiti u postojećem pedijatrijskom okruženju. Tada
govorimo o procesu tranzicije ili prelaska bolesnika iz pedijatrijske u adultnu brigu. Tranzicija je
multidisciplinarni i aktivni proces za bolesnika veoma stresan te je neophodo posvetiti veliku pažnju
psihosocijalnim i obrazovnim potrebama mladog bolesnika.
Ključne riječi: cistična fibroza, odrasli bolesnici
Literatura
|
1. CFGCA (Cystic Fibrosis Genetics Analysis Consortium). The CFTR Mutation Database. Dostupno na: http://www3.genet.sickkids.on.ca/cftr/app |
|
|
|
|
|
2. Do.Tješić-Drnković, L.Omerza,Du.Tješić-Drinković, S.Kelečić, D.Čaleta. Osobitosti cistične fibroze u adolescentnoj i odrasloj dobi. Pediatr. Croat. 2014; 58(1):66-71. |
|
|
|
|
|
3. Cystic Fibrosis Foundation Patient Registry Annual Data Report. Cystic Fibrosis Foundation: 2008 Bethesda, USA. |
|
|
|
|
|
4. Stephenson AL, Tom M, Berthiaume Y, et al. A contemporary survival analysis of individuals with cystic fibrosis: a cohort study. Eur Respir J. 2015; 45:670-679. [CrossRef] |
|
|
|
|
|
5. Kerem E, Viviani L, Zolin A, MacNeill S, Hatziagorou E, Ellemunter H, Drevinek P, Gulmans V, Krivec U, Olesen H; ECFS Patient Registry Steering Group. Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS Patient Registry. |
|
|
|
|
|
6. Eur Respir J. 2014; 43(1):125-33. |
|
|
|
|
|
7. Flume PA. Pulmonary complications of cystic fibrosis. Respir Care. 2009; 54(5):618-27. [CrossRef] |
|
|
|
|
|
8. Eckles M, Anderson P. Cor pulmonale in cystic fibrosis. Semin Respir Crit Care Med. 2003; 24(3):323-30. [CrossRef] |
|
|
|
|
|
9. Hadjiliadis D. Special considerations for patients with cystic fi brosis undergoing lung transplantation. Chest. 2007;131:1224-31. [CrossRef] |
|
|
|
|
|
10. De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis:correlation with pancreatic status and genotype. Pediatrics. 2005;115:463-9. [CrossRef] |
|
|
|
|
|
11. Noone PG. Zhou Z. Silverman LM. Jowell PS. Knowles MR. Cohn JA. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology. 2001; 121:1310-9. [CrossRef] |
|
|
|
|
|
12. Jay F., Chee Y. Ooi Pancreatitis and pancreatic cystosis in Cystic Fibrosis. Journal of Cystic Fibrosis. 2017; S79-S86. [CrossRef] |
|
|
|
|
|
13. Chan CL, Vigers T, Pyle L, Zeitler PS, Sagel SD, Nadeau KJ. Continues glucose monitoring abnormalities in cystic fibrosis youth correlate with pulmonary function decline. J Cyst Fibros. 2018; 17(6):783-790. [CrossRef] |
|
|
|
|
|
14. Mathiesen IH, Pressler T, Oturai P, KatzensteinTL, Skov M, Frikke-Schmidt R, Hitz MF.Osteoporosis Is Associated with Deteriorating Clinical Status in Adultswith Cystic Fibrosis. Int J Endocrinol. 2018. [CrossRef] |
|
|
|
|
|
15. Stalvey MS, Clines GA. Cystic Fibrosis-Related Bone Disease: Insights Into a Growing Problem. Curr Opin Endocrinol Diabetes Obes. 2013; 20(6): 547-552. [CrossRef] |
|
|
|
|
|
16. Abdul-Karim FW, King TA, Dahms BB, Gauderer MW, Boat TF. Carcinoma of extrahepatic biliary system in an adult with cystic fibrosis. Gastroenterology. 1982;82(4):758-762. |
|
|
|
|
|
17. Maisonneuve P, Marshall BC, Knapp EA, Lowenfels AB. Cancer Risk in Cystic Fibrosis: A 20-Year Nationwide Study From the United States. J Natl Cancer Inst 2013;105:122-129. [CrossRef] |
|
|
|
|
|
18. Hadjiliadis D, Khoruts A, Zauber AG, Hempstead SE, Maisonneuve P, and Lowenfels AB; On behalf of the Cystic Fibrosis Colorectal Cancer Screening Task Force Cystic Fibrosis Colorectal Cancer Screening Consensus Recommendations. Gastroenterology 2018;154:736-745. [CrossRef] |
|
|
|
|
|
19. Gini A, Zauber AG, Cenin DR, Omidvari AH, Hempstead SE, Fink AK, Lowenfels AB, Lansdorp-Vogelaar I. Cost Effectiveness of Screening Individuals With Cystic Fibrosis for Colorectal Cancer. Gastroenterology. 2018;154(3):556-567. [CrossRef] |
|
|
|
|
|
20. Niccum DE, Billings JL, Dunitz JM, Khoruts A. Colonoscopic screening shows increased early incidence and progression of adenomas in cystic fibrosis. J Cyst Fibros. 2016;15(4):548-53. [CrossRef] |
|
|
|
|
|
21. J Geake. Pregnancy and cystic fibrosis: Approach to contemporary management. Obstet Med. 2014. 7(4):147-155. [CrossRef] |
|
Mr sci dr Olivera Ljuboja
pedijatar pulmolog
Tel: +387/51/342-429
Mobtel +387/65/527098
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