Abstract

Many paediatric diseases demonstrate renal cysts and they are usually classified as inherited cystic kidney diseases and other cystic kidney diseases. Inherited cystic kidney diseases 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 parents who are more than 40 years old. Genetic testing and preimplantation genetic diagnosis with in vitro fertilization are available. Renal biopsy is not often used. Currently numerous experimental therapeutic models are being developed, which in the near future could inhibit the development and growth of cysts. In this article the two monogenic cystic kidney diseases, ARPKD and ADPKD, and their specific characteristics are presented.

Key words: autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, children, differential diagnosis.