Karadeniz Technical University, Faculty of Medicine, Dept. of Pediatric Gastroenterology Hepatology and Nutrition, Turkey.
Karadeniz Technical University, Faculty of Medicine, Dept. of Pediatric Gastroenterology Hepatology and Nutrition, Turkey.
Pediatr Neonatol. 2021 Nov;62(6):612-619. doi: 10.1016/j.pedneo.2021.05.024. Epub 2021 Jul 17.
Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing.
Demographic, clinical and genetic findings, and outcome of the patients (n = 24) with CDDs were recorded from hospital files.
The onset of diarrhea was within the neonatal period in 45.8% of the patients. The most frequent causes of CDDs were defects in digestion, absorption and transport of nutrients and electrolytes (DATN) (n = 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n = 6, 25%). Fat malabsorption (n = 6) was the leading cause of defects in DATN. Extraintestinal manifestations including neurological involvement (25%) and renal involvement (20.8%) were common among the patients. Genetic analyses were performed for 16 patients (targeted gene analysis in 9, congenital diarrhea panel in 3, immune deficiency panel in 1 and whole-exome sequencing in 3 patients). Genetic diagnosis was achieved in 14 of 16 patients (87.5%) with therapeutic consequences in 8 of 16 patients (50%). During the follow-up, 6 patients (25%) died.
The percentage of undefined etiology decreased, and treatment of the patients improved with the increased number of genetic testing in patients with CDDs.
先天性腹泻疾病（CDD）是一组罕见的肠病，通常在生命的头几个月出现，诊断具有挑战性。我们旨在分析 CDD 患儿的临床发现和结局，并分享基因检测经验。
从病历中记录了 24 例 CDD 患儿的人口统计学、临床和遗传学发现及结局。
45.8%的患儿腹泻发生在新生儿期。CDD 最常见的病因是消化、吸收和电解质转运缺陷（DATN）（n=11，45.8%）和肠道免疫相关稳态缺陷（IIH）（n=6，25%）。脂肪吸收不良（n=6）是 DATN 缺陷的主要原因。神经受累（25%）和肾脏受累（20.8%）等肠外表现在患儿中很常见。对 16 例患儿进行了基因分析（9 例进行了靶向基因分析，3 例进行了先天性腹泻组分析，1 例进行了免疫缺陷组分析，3 例进行了全外显子组测序）。16 例患儿中有 14 例（87.5%）获得了基因诊断，其中 8 例（50%）有治疗效果。随访期间，6 例患儿（25%）死亡。
随着对 CDD 患儿进行基因检测数量的增加，病因不明的比例降低，患儿的治疗效果改善。
