Valavi Ehsan, Javaherizadeh Hazhir, Hakimzadeh Mehran, Amoori Parisa
Department of Pediatric Nephrology, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Alimentary Tract Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Pediatric Health Med Ther. 2019 Dec 5;10:153-156. doi: 10.2147/PHMT.S220725. eCollection 2019.
Congenital chloride diarrhea of infancy is a life threatening disease. We discuss two boys with congenital chloride diarrhea over a long time period before and after kidney transplantation. In the first case, prenatal sonography revealed polyhydramnios and generalized bowel loop distention. The genetic study confirmed congenital chloride diarrhea of infancy. Multiple episodes of severe dehydration, hyponatremia and acute tubular necrosis were seen during the follow up period. He underwent a year of hemodialysis before kidney transplantation. Three periods of improvement concerning diarrhea occurred with the use of corticosteroids, taken for other reasons. These improvements were seen after prednisolone administration for mastoiditis and following prednisolone administration for kidney transplantation. The second case was a 3.5 year old boy who is the cousin of the first case. He was referred to hospital with chronic watery diarrhea, metabolic alkalosis, hypokalemia, hyponatremia and failure to thrive in the first year of life. He was also treated with prednisolone and showed significant improvement.
婴儿先天性氯化物腹泻是一种危及生命的疾病。我们讨论了两名患有先天性氯化物腹泻的男孩在肾移植前后的长期情况。在第一个病例中，产前超声检查发现羊水过多和肠袢普遍扩张。基因研究证实为婴儿先天性氯化物腹泻。在随访期间，多次出现严重脱水、低钠血症和急性肾小管坏死。他在肾移植前接受了一年的血液透析。因其他原因使用皮质类固醇期间，腹泻出现了三个改善阶段。这些改善分别出现在因乳突炎服用泼尼松龙后以及因肾移植服用泼尼松龙后。第二个病例是一名3.5岁男孩，是第一个病例的表弟。他在出生第一年因慢性水样腹泻、代谢性碱中毒、低钾血症、低钠血症和发育不良被转诊至医院。他也接受了泼尼松龙治疗，且有显著改善。
