Elrefae Fawaz, Elhassanien Ahmed Farag, Alghiaty Hesham Abdel-Aziz
Pediatric Gastroenterology, Al-Adan Hospital, Kuwait.
Clin Exp Gastroenterol. 2013 Jun 5;6:71-5. doi: 10.2147/CEG.S40620. Print 2013.
Congenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride.
To spotlight the common presentation of CCD for early management and prevention of complications.
This is a retrospective case series study of patients diagnosed as CCD who were followed up in the pediatric department of Al-Adan Hospital, Kuwait.
Twelve patients diagnosed with CCD were born to consanguineous parents; had antenatal history of intrauterine growth retardation (IUGR); polyhydramnios; and distended hypoechoic fetal bowel; and presented with abdominal distension, hypotonia and muscle wasting. 90% of patients had maternal hypertension and 75% of patients had absence of normal meconium at birth. Our patients showed a decrease in serum sodium, potassium, chloride and urine chloride.
A high level of suspicion for an early diagnosis of CCD should be considered for any infant presenting with chronic diarrhea, especially in the presence of consanguineous marriage, and the characteristic features in antenatal ultrasound. Thus, allowing for early investigations and appropriate management.
先天性氯化物腹泻（CCD）是一种罕见的常染色体隐性疾病，其特征为持续性水样腹泻（由于回肠和结肠中活性氯化物/碳酸氢根交换缺陷所致），粪便氯化物含量高。
强调CCD的常见表现，以便早期管理和预防并发症。
这是一项对在科威特阿丹医院儿科随访的被诊断为CCD的患者进行的回顾性病例系列研究。
12例被诊断为CCD的患者父母为近亲结婚；有宫内生长迟缓（IUGR）、羊水过多和胎儿肠管扩张低回声的产前病史；并表现为腹胀、肌张力低下和肌肉萎缩。90%的患者母亲患有高血压，75%的患者出生时无正常胎粪。我们的患者血清钠、钾、氯和尿氯水平降低。
对于任何出现慢性腹泻的婴儿，尤其是存在近亲结婚和产前超声特征性表现的婴儿，应高度怀疑早期诊断为CCD。从而能够进行早期检查和适当管理。
