Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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신생아에서 발생한 태변장폐색증에 동반된 낭성섬유증 1례

A case of cystic fibrosis presented with meconium ileus in a female neonate

  • 황인옥 (영남대학교 의과대학 소아과학교실) ;
  • 이은실 (영남대학교 의과대학 소아과학교실)
  • Hwang, In-Ok (Department of Pediatrics, College of Medicine, Yeungnam University) ;
  • Lee, Eun-Sil (Department of Pediatrics, College of Medicine, Yeungnam University)
  • 투고 : 2007.10.10
  • 심사 : 2007.11.13
  • 발행 : 2007.12.15
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초록

태변장폐색증은 낭성섬유증에서 가장 초기에 나타나는 임상 증상으로 태변이 장관내 축적되어 회장말단의 폐색을 일으키고 복부팽만, 담즙성 구토, 태변 배출 지연이 동반된다. 낭성섬유증은 7번 염색체 장완에 위치한 막전도조절유전자의 돌연변이로 야기되며 한국인에서는 드문 질환이다. 지금까지 대한민국에서 보고된 호흡기 질환에 동반된 낭성섬유증과 달리, 저자들은 태변장폐색증에 동반된 낭성섬유증이 유전자 검사로 진단된 1례를 경험하였기에 보고하는 바이다.

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

키워드

참고문헌

  1. Lister J. Neonatal surgery, 3rd ed. Boston London: Butterworth- Heinemann 1990:511-22
  2. Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992;256:774-9 https://doi.org/10.1126/science.1375392
  3. The cystic fibrosis Genetic Analysis Consortium. Cystic fibrosis Mutation database. Available from: http://www.genet. sickkids.on.ca /cftr/StatisticsPage.html
  4. Moon HR, Ko TS, Ko YY, Choi JH, Kim YC. Cystic fibrosis- a case presented with recurrent bronchiolitis in infancy in a Korean male infant. J Korean Med Sci 1988;3:157-62 https://doi.org/10.3346/jkms.1988.3.4.157
  5. Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, et al. Cystic fibrosis in Korean children: a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005;20:153-7 https://doi.org/10.3346/jkms.2005.20.1.153
  6. Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY. Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene. J Korean Med Sci 2006;21:563-6 https://doi.org/10.3346/jkms.2006.21.3.563
  7. Staab D. Cystic fibrosis-therapeutic challenge in cystic fibrosis children. Eur J Endocrinol 2004;151 Suppl 1:77-80
  8. Lanng S, Thorsteinsson B, Lund-Andersen C, Nerup J, Schiotz PO, Koch C. Diabetes mellitus in Danish cystic fibrosis patients: prevalence and late diabetic complications. Acta Paediat 1994;83:72-7
  9. Lyon A, Bilton D. Fertility issues in cystic fibrosis. Paediatr Respir Rev 2002;3:236-40 https://doi.org/10.1016/S1526-0542(02)00184-7
  10. Cystic fibrosis Foundation. Patient Registry. Annual Data Report 2005. Bethesda, Maryland: cystic fibrosis Foundation 2006:17
  11. Merelle ME, Nagelkerke AF, Lees CM, Dezateux C. Newborn screening for cystic fibrosis. Cochrane Database Syst Rev 2001;(3):CD001402
  12. Scotet V, de Braekeleer M, Roussey M, Rault G, Parent P, Dagorne M, et al. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 2000;356:789-94 https://doi.org/10.1016/S0140-6736(00)02652-0
  13. Di Sant'agnese PA, Darling RC, Perera GA, Shea E. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease. Pediatrics 1953;12:549-63
  14. LeGrys VA. Sweat testing for the diagnosis of cystic fibrosis: practical considerations. J Pediatr 1996;129:892-7 https://doi.org/10.1016/S0022-3476(96)70034-3
  15. Littlewood JM. The sweat test. Arch Dis Child 1986;61: 1041-3 https://doi.org/10.1136/adc.61.11.1041
  16. Wong LJ, Alper OM, Wang BT, Lee MH, Lo SY. Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. Am J Med Genet 2003;120:296-8
  17. Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, et al. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 2003;12:2321-32 https://doi.org/10.1093/hmg/ddg243
  18. Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M. Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat 1995;6:190-1 https://doi.org/10.1002/humu.1380060216

피인용 문헌

  1. Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis vol.31, pp.3, 2007, https://doi.org/10.3343/kjlm.2011.31.3.219
  2. A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X) vol.21, pp.1, 2007, https://doi.org/10.7581/pard.2011.21.1.61
  3. Chest CT Features of Cystic Fibrosis in Korea: Comparison with Non-Cystic Fibrosis Diseases vol.18, pp.1, 2007, https://doi.org/10.3348/kjr.2017.18.1.260
  4. Cystic fibrosis in a female adolescent carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr) mutation vol.8, pp.3, 2007, https://doi.org/10.4168/aard.2020.8.3.165