日本新生児成育医学会雑誌　第27巻第2号　65～70頁（2015年）

日本新生児成育医学会雑誌 27(2)：269-274；2015　

受付日：平成26．08．26

受理日：平成27．02．13

胎便性イレウスを呈した嚢胞性線維症の1 例

A Case of Cystic Fibrosis Subsequent to Meconium Ileus in Japan

＊1名古屋市立西部医療センター　小児科,＊2市立四日市病院　小児科

＊1Department of Pediatrics, Nagoya City West Medical Center, ＊2Department of Pediatrics, Yokkaichi Municipal Hospital

横井暁子＊ 1・米山美月＊ 1・芦刈友加＊ 1・水野賀史＊ 1・角田優子＊ 1・清水正己＊ 1・小林　悟＊ 1・福田純男＊ 2・鈴木　悟＊ 1・後藤玄夫＊ 1・戸苅　創＊ 1

Kyoko YOKOI＊1，Mizuki YONEYAMA＊1，Yuka ASHIKARI＊1，Yoshifumi MIZUNO＊1，Yuko TSUNODA＊1， Seiki SHIMIZU＊1，Satoru KOBAYASHI＊1，Sumio FUKUDA＊2，Satoshi SUZUKI＊1，Haruo GOTO＊1， Hajime TOGARI＊1

Key Words：cystic fibrosis，meconium ileus，pancreatic enzyme

　症例は在胎38 週1 日，出生体重2,405g の男児。日齢1 に腹部膨満と嘔吐がみられたため，開腹術を施行したところ，ゴム状の粘稠な胎便が腸内に充満しており，胎便関連腸閉塞症が疑われた。しかし，経腸栄養開始後に多量の脂肪便と体重増加不良が続き，検査にて膵外分泌不全と汗のクロール高値を認め嚢胞性線維症と診断した。診断直後の経腸栄養は成分栄養剤と中鎖脂肪酸（medium chain triglyceride：MCT）オイルを使用し，日齢106 からは高力価パンクレリパーゼ（リパクレオン®）の内服を開始した。その結果，人工乳で体重増加は良好になった。胎便性イレウスは嚢胞性線維症の患者の15 ～ 17％に認められる特徴的な症状であるが，アジア人には非常に稀な疾患であるため，国内での認知度は低いが，新生児イレウスの鑑別診断として念頭に置くべきである。

　We presented herein a case of meconium ileus due to cystic fibrosis（CF）. The male patient was born at 38 weeks gestations and weighed 2,405 gram. His mother was a Filipino, and his father was Japanese. They were not consanguineous marriage. At 1day old, he had an operation due to abdominal distention and ileus, and it showed that there was much viscous meconium in the whole ileum. The histological examination revealed no evidence for Hirschsprung’s disease. Though he took breast milk sufficiently after operation, body weight gain was poor and a large quantity of steatorrhea was observed. From 40 days old, the cause of his steatorrhea was investigated in detail. The sweat chloride was 235mmol/L. The serum levels of trypsin and phospholipase A2 were high, and hypoalbuminemia （Alb 2.1g/dL）, hypocholesterolemia（TCh 72mg/dL）and mild anemia（Hb 9.4g/dL）were detected. These results suggested of pancreatic exocrine insufficiency and malabsorption. According to sweat chloride test, blood examination and clinical course, he was diagnosed as CF. After the diagnosis, he was fed elemental diet, which contained medium chain triglyceride. Oral supplementation of pancreatic enzyme（Creon）was started at 106 days old. Creon seemed to be effective and his clinical condition improved with sufficient breast milk feeding. Gene mutation analysis of CF transmembrane conductance regulator revealed homozygosity for R1066C.
　Though CF is the most common autosomal recessive disease in Caucasians（1 in 3,500）, extremely rare in Asians（1 in 1,000,000）, we should consider CF as a cause of meconium ileus.