Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period
10.3339/jkspn.2018.22.2.64
- Author:
Carmen TRUYOLS
1
Author Information
1. Hospital del Escorial, Spain. carmen.truyols@madrid.salud.org
- Publication Type:Case Report
- Keywords:
ADPKD;
Agenesia;
PKD1;
Kidney;
Polycystic
- MeSH:
Calcium;
Cell Cycle;
Chromosomes, Human, Pair 16;
Epithelial Cells;
Female;
Humans;
Kidney;
Kidney Failure, Chronic;
Polycystic Kidney, Autosomal Dominant
- From:Childhood Kidney Diseases
2018;22(2):64-66
- CountryRepublic of Korea
- Language:English
-
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.
