Liaugaudiene Olga, Stoniene Dalia, Kucinskiene Ruta, Buffat Christophe, Asmoniene Virginija
Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania.
Department of Neonatology, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania.
J Pediatr Genet. 2019 Mar;8(1):24-26. doi: 10.1055/s-0038-1669437. Epub 2018 Aug 25.
Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of , which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.
先天性氯化物腹泻（CCD）是一种罕见疾病，在婴儿期表现为分泌性腹泻和危及生命的电解质失衡。因此，早期诊断CCD对于充分治疗是必要的。妥善管理的CCD的长期预后良好。我们报告一例合并坏死性小肠结肠炎的复杂CCD病例。患儿的父母为非近亲结婚的立陶宛裔。因水样腹泻、进行性低氯血症和高粪便氯化物怀疑患有CCD。尽管已开具口服电解质处方，但仍发生了小肠扭转，需要多次手术干预。通过对患者DNA进行分子基因检测，确诊为CCD，结果显示患者DNA中有两个波兰始祖突变。在立陶宛邻国波兰，CCD的患病率约为每20万活产中有1例。据我们所知，这是立陶宛首例报道的CCD病例，这表明该病可能未得到充分诊断。
