Guo Jing, He Rong, Mao Zhi-Qin
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Department of Genetics, Shengjing Hospital of China Medical University, Shenyang, China.
Front Pediatr. 2021 Apr 14;9:656584. doi: 10.3389/fped.2021.656584. eCollection 2021.
A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a hemizygous mutation site (c.223C>T) in exon 3 and exon 2-3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function.
一名2个月大的男婴出生1个月后出现白色粪便。皮肤、黏膜或巩膜无黄疸；肝脏肿大（肋下4厘米），肝功能检查显示总胆红素（TB）、直接胆红素（DB）和总胆汁酸（TBA）略有升高。腹部多普勒超声未显示胆道闭锁迹象。基因检测显示外显子3存在半合子突变位点（c.223C>T）以及外显子2 - 3杂合缺失突变。口服胰酶片后婴儿粪便转为黄色。最终，该婴儿被诊断为囊性纤维化（CF）。文献回顾显示有5名患有CF的儿童（包括本病例研究中的婴儿）出现白色粪便。所有5名儿童均有贫血，4名有水肿和低蛋白血症，5名有粪便颜色改变（2例为开心果绿色，1例为浅色，1例为无胆汁粪便，1例为白色粪便），2例有胆汁淤积，1名婴儿胎粪排出延迟，3名儿童生长发育迟缓且肝脏肿大。2名儿童汗液试验异常，1名有F508del复合杂合突变，1名有3个突变位点（C.214G>G/A，P.A72T；C.650A>A/G，P.E217G，以及C.3406G>G/A，P.A1136T），为复合杂合突变。因此，CF可纳入白色粪便婴儿的鉴别诊断。基因检测可确诊CF早期诊断。已证明胰酶替代疗法有助于改善消化功能。
