Child Kidney Dis.  2018 Apr;22(1):28-30. 10.3339/jkspn.2018.22.1.28.

Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period

Affiliations
  • 1Hospital del Escorial, El Escorial, Spain. carmentruy@hotmail.com

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.

Keyword

Autosomal dominant polycystic kidney disease (ADPKD); Agenesis; PKD1; Polycystic kidney

MeSH Terms

Calcium
Cell Cycle
Chromosomes, Human, Pair 16
Epithelial Cells
Female
Humans
Kidney
Kidney Failure, Chronic
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant*
Calcium
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