在患有自体逆性多囊性病的新生儿中,可变的临床表现和结结果
Ei Khin1,2, Divya Ramdas3,4
1Pediatric Nephrology, Texas Tech University Health Sciences Center El Paso, Paul L. Foster School of Medicine, El Paso, USA.
Cureus
|June 10, 2024
概括
自体逆性多囊性病 (ARPKD) 是一种遗传性疾病,在新生儿中出现缩的脏和肝脏问题. 早期诊断和管理对于改善受影响儿童的结果至关重要.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
背景情况:
- 自体逆性多囊性病 (ARPKD) 是儿童慢性病的重要遗传原因.
- 它源于多囊和肝病-1 (PKHD1) 基因的突变.
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