[Cystic and hyperechogenic kidneys in children]

Nephrol Ther. 2010 Jul;6(4):272-9. doi: 10.1016/j.nephro.2010.03.006. Epub 2010 Apr 28.
[Article in French]

Abstract

Thanks to prenatal ultrasound scan, cystic kidneys, as well as obstructive uropathies, are the most frequent renal anomalies identified during pregnancy. They should be recognized because of genetic and clinical implications. The most frequent are autosomal dominant and recessive polycystic kidney diseases, followed by renal developmental anomalies linked to TCF2 gene. Renal cysts are also observed in other hereditary diseases or multiple malformation syndromes (tuberosis sclerosis, Meckel-Grubber syndrome, Oro-facial digital type 1 syndrome...). The diagnosis is based on a sonographic and morphological analysis of renal abnormalities, on the search for family histories and extra-renal manifestations. A better classification of these patients allows tailor-made follow-up and care improvement.

MeSH terms

  • Biomarkers / metabolism
  • Child
  • Diagnosis, Differential
  • Female
  • Hepatocyte Nuclear Factor 1-beta / genetics
  • Humans
  • Infant, Newborn
  • Kidney Diseases, Cystic / diagnostic imaging*
  • Kidney Diseases, Cystic / genetics
  • Mutation
  • Phenotype
  • Polycystic Kidney Diseases / diagnostic imaging
  • Pregnancy
  • Radiography
  • Receptors, Cell Surface / genetics
  • Ultrasonography, Prenatal*

Substances

  • Biomarkers
  • HNF1B protein, human
  • PKHD1 protein, human
  • Receptors, Cell Surface
  • Hepatocyte Nuclear Factor 1-beta