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PEUTZ-JEGHERS SENDROMU - Adnan Menderes Üniversitesi Tıp ...

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Peutz - Jeghers Sendromu: Bir olgu sunumu<br />

yaþýndaki erkek hastada polipler operasyon sýrasýnda<br />

görülmüþtür. Bu hastanýn aile taramasýnda 4<br />

asemptomatik bireyde intestinal polipozis<br />

bulunmuþtur.<br />

PJS'lu hastalarda kronik kan kaybýna baðlý<br />

anemi sýktýr. Hastamýz da melana þikayeti ile<br />

baþvurmuþ ve demir eksikliði anemisi teþhis<br />

edilmiþtir. Hem anemi ve hem de olabilecek<br />

komplikasyonlar yönünden izleme alýnmýþtýr.<br />

PJS'lu hastalarýn ailelerinde de LKB1<br />

mutasyonlarýnýn bulunmasý, morbidite ve mortalitenin<br />

de artmýþ olmasý bu hastalýðýn benign bir hastalýk<br />

olmadýðýný göstermektedir.<br />

Sonuç olarak malignite riski yüksek olduðundan<br />

genç yaþtaki hastalarýn bu açýdan tetkiki ve izlemi<br />

uygun olur. Ayrýca PJS'lu hastalarda aile araþtýrmasý<br />

yapýlmasý da gereklidir.<br />

26<br />

19<br />

KAYNAKLAR<br />

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syndrome. Am J Gastroenterol 2000;95:596-604.<br />

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RE, Kliegman RM, Jenson HB (eds.) Nelson Textbook<br />

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of Pediatrics, 16 ed. Philadelphia: W.B. Saunders<br />

Company, 2000:1183-4.<br />

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20<br />

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malformation. 4 ed. W.B. Saunders Company,<br />

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Salovaara R, Jarvinen H, Mecklin JP, Oku A, Shimane<br />

M, Kim HC, Kim JC, Nezu J, Aaltonen LA. No<br />

evidence of Peutz-Jeghers syndrome gene LKB1<br />

involvement in left-sided colorectal carcinomas.<br />

Cancer Res 2000;60:546-8.<br />

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Identification of a novel mRNA species of the<br />

LKB1/STK11 Peutz-Jeghers serine/threonine kinase.<br />

DNA Seq 1999;10:255-61.<br />

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of Peutz-Jeghers syndrome. Cell Mol Life Sci<br />

1999;55:735-50.<br />

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noninvasive diagnosis. Clin Pediatr 2000;212:332-5.<br />

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Goodman SN, Petersen GM, Booker SV, Cruz-Correa<br />

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Peutz-Jeghers syndrome. Gastroenterology<br />

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15. McGarrity TJ, Peiffer LP, Billingsley ML.<br />

Overexpression of epidermal growth factor receptor in<br />

Peutz-Jeghers syndrome. Dig Dis Sci 1999;44:1136-<br />

41.<br />

16. Bergada I, Del Toro K, Katz O, Chemes H, Campo S.<br />

Serum inhibin B concentration in a prepubertal boy<br />

with gynecomastia and Peutz-Jeghers syndrome. J<br />

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Nav Med Serv 1998;84:141-4.<br />

18. Naganuma H, Ishida H, Konno K, Komatsuda T, Sato<br />

M, Funaoka M, Fujimori S. Intussusception in Peutz-<br />

Jeghers syndrome: sonographic findings. Abdom<br />

Imaging 1999;24:333-5.<br />

19. Baumgartner G, Neuweiler J, Herzog D. Peutz-Jeghers<br />

syndrome: is family screening needed? Pediatr Surg Int<br />

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20. Westerman AM, Entius MM, de Baar E, Boor PP, Koole<br />

R, van Velthuysen ML, Offerhaus GJ, Lindhout D, de<br />

Rooij FW, Wilson JH. Peutz-Jeghers syndrome: 78year<br />

follow-up of the original family. Lancet 1999<br />

10;353:1211-5.<br />

YAZIÞMA ADRESÝ<br />

Gülten ÝNAN<br />

<strong>Adnan</strong> <strong>Menderes</strong> Üniversitesi Týp Fakültesi<br />

Çocuk Saðlýðý ve Hastalýklarý Anabilim Dalý AYDIN<br />

E-Mail : fginan@yahoo.com<br />

Tel : 0 256 212 59 47<br />

Geliþ Tarihi : 05.04.2001<br />

Kabul Tarihi : 01.05.2001

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