Ruzgienė Dovilė, Sutkevičiūtė Meda, Burnytė Birutė, Grigalionienė Kristina, Jankauskienė Augustina
Faculty of Medicine, Vilnius University, Lithuania Vilnius University Hospital Santaros Klinikos.
Acta Med Litu. 2021;28(2):308-316. doi: 10.15388/Amed.2021.28.2.5. Epub 2021 Aug 2.
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare. Kidney cysts may be the only isolated finding or be part of the overall phenotype. They can be asymptomatic, found by ultrasound accidentally or can manifest from mild to life-threatening symptoms. Therefore, early diagnosis is very important. Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the most common causes of kidney cysts in the neonatal population. This review highlights the most common kidney cystic diseases during the neonatal period and a rare clinical case of HNF1B-associated disease.
肾囊肿是最常见的肾脏病变，而先天性肾囊肿多见于儿童群体。新生儿肾囊肿可因胎儿畸形、罕见的遗传疾病而发生，也可能是后天获得性的，但极为罕见。肾囊肿可能是唯一的孤立发现，也可能是整体表型的一部分。它们可能无症状，通过超声偶然发现，也可能表现出从轻度到危及生命的症状。因此，早期诊断非常重要。常染色体显性多囊肾病和常染色体隐性多囊肾病是新生儿群体中肾囊肿最常见的病因。本综述重点介绍了新生儿期最常见的肾囊性疾病以及1例罕见的与肝细胞核因子1β（HNF1B）相关疾病的临床病例。
