超音波および羊水生化学検査により出生前診断し得た先天性クロール下痢症の1症例

概要

論文の詳細を見る
Congenital chloride diarrhea(CCD) is an exceedingly rare autosomal recessive disorder characterized by absent or impaired cellular transport of chloride from the distal ileum and colon. We reported a case of CCD, diagnosed prenatally by ultrasound findings and biochemical evaluation of amniotic fluid. Ultrasound findings were polyhydramios and multiple loops of dilated bowel, in cluding the rectum. Biochemical evaluation of amniotic fluid revealed high levels of fetal digestive enzymes, i.e., gamma-glutamyl-granspeptidase, alkaline phsosphatase, and leucine aminopeptidase were, at highest, 6,159IU/L, 7,405IU/L and 533IU/L, respectively. This is the first report of prenatal diagnosis of CCD in Japan.
社団法人日本産科婦人科学会の論文
2001-04-01