Distal intestinal obstruction syndromeを認めた嚢胞性線維症の1例  [in Japanese] A Case of Cystic Fibrosis With Distal Intestinal Obstruction Syndrome  [in Japanese]

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Author(s)

Abstract

Distal intestinal obstruction syndrome(DIOS)を認めた嚢胞性線維症の1例を報告した.症例は1歳9か月の1女児.月齢3より嘔吐,脱水,電解質異常,喘息様気管支炎,気管支喘息の診断で入退院を繰り返していた.今回,気管支喘息重積発作のため入院したが,9病日より腹部膨満が出現した.16病日に腸閉塞の診断で開腹手術を行った.回腸遠位部に食物残渣の貯留を認めた.汗中塩素濃度が207mEq/lと異常高値であり,cystic fibrosis transmembrane conductance regulator(CFTR)遺伝子のdeletion解析で,エクソン16,17a,17bにまたがる完全欠失のホモ接合が判明し,嚢胞性線維症の診断が確定した.イレウス症状は嚢胞性線維症の一症状であるdistal intestinal obstruction syndromeに該当すると思われた.嚢胞性線維症は本邦において現在考えられているより罹患率の高い疾患である可能性があり,本症が疑われる場合汗電解質測定やCFTR遺伝子解析を考慮する必要がある.

We report a case of cystic fibrosis (CF) with distal intestinal obstruction syndrome (DIOS). A twenty-one-month old girl was admitted with status asthmaticus. She had repeated hospitalization due to vomiting, dehydration, electrolyte abnormality, asthmatic bronchitis, or bronchial asthma from 3 months old. On the ninth hospital day she presented with abdominal distension and on the sixteenth day she underwent laparotomy due to small bowel obstruction. Food residue was packed in the distal ileum. The sweat chloride concentration rose to 207mEq/l. Because mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene indicated a homozygous deletion of exons 16-17b in the CFTR gene, she was diagnosed with cystic fibrosis. Her ileus corresponds to the DIOS, which is one of the intestinal symptoms of CF. The incidence of CF in our country may be higher than is expected. If it is suspected that a patient has CF, a sweat chloride test and gene analysis of CFTR are recommended.

Journal

  • Journal of the Japanese Society of Pediatric Surgeons

    Journal of the Japanese Society of Pediatric Surgeons 47(5), 848-851, 2011

    The Japanese Society of Pediatric Surgeons

References:  7

Codes

  • NII Article ID (NAID)
    110008711758
  • NII NACSIS-CAT ID (NCID)
    AN00192281
  • Text Lang
    JPN
  • Article Type
    NOT
  • ISSN
    0288-609X
  • NDL Article ID
    11219193
  • NDL Source Classification
    ZS35(科学技術--医学--外科学・整形外科学・麻酔学)
  • NDL Call No.
    Z19-244
  • Data Source
    CJP  NDL  NII-ELS  J-STAGE 
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