埃及儿童遗传性管性脏疾病的模式
Mohamed A M-Osman1, Ghada A B-Abd-Elrehim1, Elsayed Abdelkreem1
1Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
遗传性管性脏疾病在埃及儿童中很常见,偏远RTA和巴特特综合征是最常见的. 诊断往往会延迟,突出需要提高意识和及时干预.
科学领域:
- 儿科脏病学 儿科脏病学
- 遗传学 遗传学 是一个
- 内部医学 内部医学
背景情况:
- 遗传性管性病 (HRTD) 是一种影响液体,电解质和酸平衡的遗传性疾病.
- 在埃及对儿科HRTD的研究有限,需要进行本地研究.
- 本研究调查了埃及儿童HRTD的特征和结果.
研究的目的:
- 确定埃及儿科HRTD的模式和特征.
- 分析被诊断患有HRTD的儿童的成长结果.
- 确定埃及儿科人口中常见的HRTD类型和诊断挑战.
主要方法:
- 在索哈格大学医院 (2015-2021) 诊断出HRTD的58名儿童的回顾性分析.
- 收集的数据包括人口统计,临床表现,生长参数和实验室发现.
- 包括一个月至18岁的儿童,已确认HRTD.
主要成果:
- 远端管酸性 (46.6%) 和巴特综合征 (27.6%) 是最常见的HRTD类型.
- 常见的症状包括发育不良 (91.4%),发育迟缓 (79.3%) 和脱水 (72.4%).
- 大多数患者在治疗后得到改善,除了Fanconi综合征患者;只有一个病例进展到末期脏疾病.
结论:
- 在埃及儿童中,HRTD,特别是远端RTA和巴特综合征,似乎相对较为常见.
- 在这个人群中,HRTD的诊断往往会延迟,这表明诊断挑战.
- 早期识别和管理对于改善儿科HRTD的成长结果至关重要.
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