Avtosomno recesivna in avtosomno dominantna policistična ledvična bolezen pri otrocih - kratek pregled
Autosomal recessive and autosomal dominant polycistic kidney disease in children - a short overview

slovenian

2012

volume 19, issue 1

Društvo za pomoč otrokom s presnovnimi motnjami
(Obvezni izvod spletne publikacije)

Many pediatric diseases demonstrate renal cysts and are usually classified in inherited cystic kidney diseases and other cystic kidney diseases. Inherited cystic kidney disease can generally be distinguished from autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) by the history, physical examination, imaging studies (ultrasound, computed tomography, magnetic resonance), laboratory tests, nonrenal clinical characteristics and screening of the parents more than 40 years old. Genetic testing and preimlantation genetic diagnosis with in vitro fertilization are available. Renal biopsy is not frequently used. Currently numerous experimental therapeutic models are developing, which in the near future can inhibit the development or growth of cysts. In this article the two monogenic cystic kidney diseases, ARPKD and ADPKD, and their specific characteristics are presented.

14.01.2025