Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease.

常染色体隐性多囊肾病新生儿的临床表现和肾脏结局。

• 发表时间: 2024 May
• 来源期刊: Cureus
• DOI: 10.7759/cureus.59993
• PMID: 38854310
• 文章类型: Case Reports
• 作者列表: Khin E,Ramdas D

关键词: autosomal dominant polycystic kidney disease; autosomal recessive polycystic kidney disease; cilia-related cystic kidney disease; jourbet syndrome; nephronopthisis; pediatric cystic kidney disease

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited cause of chronic kidney disease in children. The most typical presentations in neonates are massively enlarged kidneys with variable echogenicity, multiple small cysts, and congenital hepatic fibrosis. Potter sequence with pulmonary hypoplasia can present due to oligohydramnios. Severe pulmonary hypoplasia can lead to respiratory insufficiency and perinatal death. Some affected children can develop end-stage renal disease in early childhood or adolescence. Here, we report the clinical presentations, management, and renal outcomes of three neonatal cases of ARPKD from our center.

摘要

常染色体隐性遗传多囊肾病(ARPKD)是由多囊肾肝病-1(PKHD1)基因突变引起的,是儿童慢性肾脏病的重要遗传原因。新生儿中最典型的表现是具有可变回声的大量增大的肾脏，多发小囊肿,先天性肝纤维化。由于羊水过少，Potter序列可出现肺发育不全。严重的肺发育不良可导致呼吸功能不全和围产期死亡。一些受影响的儿童可能在儿童早期或青春期发展为终末期肾病。这里,我们报告临床表现，管理,我们中心3例ARPKD新生儿的肾脏结局。