- 1079 - KISEP 한이인지: 한이인지: 한이인지: 한이인지:제 40 권 제 8 호 1997 원발성 섬모 이운동증에 대한 고찰 한양대학교 의과대학 이비인후과학교실 박철원·고재성·김경래·이형석 = Abstract = A Clinical Study on Primary Ciliary Dyskinesia Chul Won Park, M.D., Jae Sung Koh, M.D., Kyung Rae Kim, M.D., Hyung Seok Lee, M.D. Department of Otolaryngology, College of Medicine, Hanyang University, Seoul, Korea Background:Since ciliary dysfunction of the respiratory system impair mucosal ciliary clearance, it is associated with recurrent or persistent upper respiratory infections, chronic bronchitis, chronic sinusitis, recurrent pneumonia, recurrent otitis media, bronchiectasis and chronic rhinitis. Primary ciliary dyskinesia has a familial tendency and it is known to have autosomal recessive trait, and rarely acquired trait. Objectives:We had this study in order to inspect whether primary ciliary dyskinesia is associated with recurrent or persistent upper respiratory problems or not. Materiasl and Methods:From May 1995 through April 1996, by electron microscopy of the nasal mucosa, the authors analysed nine patients who had recurrent or persistent respiratory symptoms. Results:Electron microscopic findings revealed primary ciliary dyskinesia in 4 patients with the symptoms of upper respiratory tract problems. Conclusion:It is concluded that nasal mucosal biopsy may be necessary for rule out primary ciliary dyskinesia in the patients with recurrent respiratory infections. ( Korean J Otolaryngol 40: 8, 1997) KEY WORDS:Primary ciliary dyskinesia·Electron microscopic findings. 서 론 원발성 섬모 이운동증(primary ciliary dyskinesia) 은 호흡기도의 섬모에 유전적으로 결정된 섬모미세구 조의 이상으로 인해 기능적으로 비효율적인 섬모운동 과 점액섬모이송에 장애를 초래하는 질환이다. 이 질 환은 인체내의 섬모가 존재하는 호흡기, 부비동, 척수 및 뇌실, 난관 및 정관 등 어느 부위에나 병변을 나타 낼 수 있으며, 특히 이비인후과 영역의 주요질환인 만 성부비동염, 삼출성 중이염 및 만성 기관지염의 병인 이 될 수 있다. Azelius 등 1) 이 전자현미경적으로 섬모 의 미세 구조의 이상을 보고한 이래, 국내에서는 1984 년 박 등 2) 의 보고를 시작으로 1995년 민 등 3) 몇몇 보고자가 증례를 보고하였다. 호흡기 계통의 질환을 다루는 임상의는 본 질환에 대한 관심을 갖고 임상에 논문접수일:1997년 1월 8일 심사통과일:1997년 6월 24일
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원발성 섬모 이운동증에 대한 고찰kjorl.org/upload/pdf/0011997151.pdfciliary dyskinesia has a familial tendency and it is known to have autosomal recessive trait, and rarely
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Chul Won Park, M.D., Jae Sung Koh, M.D., Kyung Rae Kim, M.D., Hyung Seok Lee, M.D.
Department of Otolaryngology, College of Medicine, Hanyang University, Seoul, Korea
Background:Since ciliary dysfunction of the respiratory system impair mucosal ciliary clearance, it is associated with recurrent or persistent upper respiratory infections, chronic bronchitis, chronic sinusitis, recurrent pneumonia, recurrent otitis media, bronchiectasis and chronic rhinitis. Primary ciliary dyskinesia has a familial tendency and it is known to have autosomal recessive trait, and rarely acquired trait.
Objectives:We had this study in order to inspect whether primary ciliary dyskinesia is associated with recurrent or persistent upper respiratory problems or not.
Materiasl and Methods:From May 1995 through April 1996, by electron microscopy of the nasal mucosa, the authors analysed nine patients who had recurrent or persistent respiratory symptoms.
Results:Electron microscopic findings revealed primary ciliary dyskinesia in 4 patients with the symptoms of upper respiratory tract problems.
Conclusion:It is concluded that nasal mucosal biopsy may be necessary for rule out primary ciliary dyskinesia in the patients with recurrent respiratory infections. ((((Korean J Otolaryngol 40::::8, 1997)))) KEY WORDS:Primary ciliary dyskinesia·Electron microscopic findings.
서 론
원발성 섬모 이운동증(primary ciliary dyskinesia)
은 호흡기도의 섬모에 유전적으로 결정된 섬모미세구
조의 이상으로 인해 기능적으로 비효율적인 섬모운동
과 점액섬모이송에 장애를 초래하는 질환이다. 이 질
환은 인체내의 섬모가 존재하는 호흡기, 부비동, 척수
및 뇌실, 난관 및 정관 등 어느 부위에나 병변을 나타
낼 수 있으며, 특히 이비인후과 영역의 주요질환인 만
성부비동염, 삼출성 중이염 및 만성 기관지염의 병인
이 될 수 있다. Azelius 등1)이 전자현미경적으로 섬모
의 미세 구조의 이상을 보고한 이래, 국내에서는 1984
년 박 등2)의 보고를 시작으로 1995년 민 등3) 몇몇
보고자가 증례를 보고하였다. 호흡기 계통의 질환을
다루는 임상의는 본 질환에 대한 관심을 갖고 임상에 논문접수일:1997년 1월 8일 심사통과일:1997년 6월 24일
All patients showed normal findings in the morphologic examination of peripheral blood *CMI:Cell mediated immunity assessed by the skin test for delayed type hypersensitivity **N:Normal ***ND:Not determined
Table 5. Ultrasturctural fingings of the nasal mucosa
Case No. E.M. findings
1 Inner dynein arm defect 2 Outer doublets single tubules 3 Outer doublets extra tubules 4 Microtubular transposition 5 Squamous metaplasia 6 No visible cilia* 7 No visible cilia 8 No visible cilia 9 Within normal limit
*The specimen was not examined satisfactorily
한이인지:제 4 0권 제 8호 1997
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결되며, nexin이 외미소이중관을 서로 연결해 준다.
subfiber A는 subfiber B보다 다소 작으며, subfiber
A에서 뻗어나간 2개의 선구조를 dynein arm이라 하
며, outer dynein arm이 inner dynein arm보다 크다.
1977년 Forcett13)의 sliding filament가설에 의해 섬
Fig. 1. Inner dynein arm defect(×140,000).
Fig. 2. Single tubule in outer doublets(×104,000).
The immotile cilia syndrome. New Engl J Med. 1977;297:1
7) Jonsson MS, McCormick JR, Gillies CG, Gondos B:Kartagener’s syndrome with motile spermatozoa. N Engl J Med. 1982;307:1131-3
8) Rossman CM, Forrest JB, Lee RM, Newhouse MT:The dyskinetic cilia syndrome. Ciliary mo-tility in immotile cilia syndrome. Chest. 1980;78:580-2
9) Rott HD:Kartagener’s syndrome and the synd-rome of immotile cilia. Hum Genet. 1979;46:249-61
10) Rossman CM, Forrest JB, Lee RM, Newhouse AF, Newhouse MT:The dyskinetic cilia syndro-me:Abnormal ciliary motility in association with abnormal ciliary ultrastructure. Chest. 1981;80:860-5
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rogenecity of dynein-deficiency in cilia from pa-tients with respiratory disease. Am Rev Respir Dis. 1982;126:302-5
13) Fawcett DW:What makes cilia and sperm tails beat? N Engl J Med. 1977;297:46
14) Sturgess JM, Chao J, Wong J, Aspin N, Turner JA:Cilia with defective radial spokes:Cause of human respiratory disease. N Engl J Med. 1979;300:53-6
15) Sturgess JM, Chao J, Turner JA:Transposition of ciliary microtubules. N Engl J Med. 1980;303:318-22
16) Newhouse MT:Immotile cilia sndrome and cilia abnormalities induced by infection and injury. Am Rev Respir Dis. 1982;125:371
17) Wilton LJ, Teichtahl H, Temple-Smith PD, De-Kretser DM:Kartagener’s syndrome with the mo-tile cilia and immotile spermatozoa;Axonemal ultrastructure and function. Am Rev Respir Dis. 1986;134:1233-6
18) Takasaka T, Sato M, Onodera A:Atypical cilia of the human nasal mucosa. Ann Otol Rhinol La-ryngol. 1980;89:37-45
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