hirschsprung's disease: etiology and pathophysiology · 2018. 10. 12. · hirschsprung's disease:...

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41 ;t.°l £.jJ!j- : ;\1] 8 Ti ;<11 1 §. 2002\:! Vol. 8, No , 1. June 2002 Hirschsprung's Disease: Etiology and Pathophysiology Hirschsprung's Disease: Etiology and Pathophysiology Myung Duk Lee, M.D. Department of Surgery, College of Medi ci ne, the Catholic University of Korea Seoul, Korea Abnormal distribution of the enteric nerves such as adrenergic , cholinergic and peptidergic nerves may cause the functional obstruction in Hirschsprung's disease (HD). Although the sustained contraction of the aganglionic segment is the main pathophysiology of HD. the etiology and pathogenesis is not thoroughly understood, With the recent progress of molecular biology and genetics,a more detailed approach to the pathogenesis of the HD can be und er taken . In this review, the roles of th e nitric oxide , nitric oxide synthase and interstitial cells of Cajal on smooth muscle relaxation , the effects of extracellular matrix , cell adhesion molecules, neurotrophic factors on the migration and maturation of the neural crest cells are described. In the section of gen e tic factors , familial occurrences, association of chromosomal abnormalities , RET gene, glial cell line -deriv ed neurotrophic factor gene, endothelin-3 gen e and e ndothelin-B re ce ptor gene and their re lationships to HD is briefly r ev iewed. (J Kor Assoc Pedi atr Surg 8( 1):41 2002. Index Words: Hirschsprung's di sease, Etiology, Genetics, Pathophysiolgy '3<l AJoH9.l- 7 -1rll "8' }lH rll-¥--lE-Qj Qj -¥-.<f17} Qj u 10JH Hirschsprung (l886).g. rll"8'} O:j . .f ,2.0} 01 %Qj i1 Correspondence : Myung Duk .. MD., Department of Surgery, Kangnam St. Mary's the Catholic, University of Korea. 505 &mpo-dong, seoch-gu, seoul 137-0:10, Korea. E-mail;imyung@catholic. ac.kr 3::5- "8' }J?:! A l 7 -1 (congenital dilatation of the colon)012-}.Jl 71oJ1 0 1 '?d 93 Hirschsprung's di sease (lID)2-}.Jl -¥- 111 J .f Ehrenpreis J "8' }loIJQj :§fA JS1 71 -¥-.<f1 7} "8' 1 · -¥-Qj AJoRoJ1 ¥012-}.Jl u:j , J (myenteri c plexus) oJ1 (ganglionic cell, GC) 7} ( aganglionosis) 01 -'(i 01 1948\1 oJ1 Whitehouse, Ker- nohan '3<l Zuel zer, Wi lson oJ1 Qj "8' }O:j Zj- Zj- ct. J c1 Y. GC -¥-fiR 7,1 7, 1 7} -8:- r i1 i] .c oJ1 01

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  • 4 1 ;t.°l £.jJ!j- : ;\1] 8 Ti ;

  • 42

    NORMAL HIRSCHSPRUNG'S DISEASE

    Fig. 1. Schematic presentation of the enteric nervous system of the normal (left) and aganglionic (right) bowel wall (E; excitatory fibers, I; inhibitory fibers , NO; nitric oxide)1.

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  • °1~ I2:j : Hirsc h s Pl'ung's Di sease: Et iology a nd Pathop hys iolo gy 43

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  • 44

    curse %.f-;r %0] % Jfr.

  • °l ~ 12:1 : Hirsc h s prung's Disease : Etiology a nd Pathophys iology 45

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