Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

Nephrology (Carlton). 2015 Jun;20(6):413-8. doi: 10.1111/nep.12414.


Aim: Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise various entities of structural malformations that result from defects in morphogenesis of the kidney and/or urinary tract. These anomalies are the most commonly diagnosed malformations in the prenatal period and constitute the leading cause of end-+stage renal disease (ESRD) in children, worldwide. This prospective study was performed to report the patterns of clinical presentation and diagnosis of infants and children with such malformations.

Methods: Patients with suggestive features of CAKUT, presenting to Cairo University Children Hospital over one year duration were investigated and categorized based on underlying renal structural/functional malformation and associated extra-renal anomalies.

Results: One hundred and seven CAKUT children were enrolled in the study. Familial clustering was identified in 14% of the cohort and syndromic CAKUT accounted for 31.8% of cases. Different anomaly entities have been identified; posterior urethral valves (PUV) being the commonest detected abnormality (36.4%). Of note, 9.3% of cohort patients had ESRD at presentation, of which 60% had PUV as their primary renal disease. Obstructive cases were noted to present significantly earlier and attain advanced CKD stages rather than non-obstructive ones.

Conclusion: CAKUT is a clinically heterogeneous group of diseases with diverse clinical phenotypes. More efforts should be aimed at improving antenatal detection as well as classification with comprehensive reference to the clinical, genetic and molecular features of the diseases. The high frequency of familial and syndromic CAKUT among studied patients is seemingly a convincing reason to pursue the underlying genetic defect in future studies.

Keywords: end stage renal disease; multicystic dysplastic kidney; posterior uretheral valves; structural and functional malformations; urinary tract infection; vesico-ureteric reflux.

MeSH terms

  • Child
  • Child, Preschool
  • Disease Progression
  • Egypt / epidemiology
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Hospitals, University
  • Humans
  • Infant
  • Infant, Newborn
  • Kidney Failure, Chronic / diagnosis
  • Kidney Failure, Chronic / epidemiology
  • Male
  • Pedigree
  • Phenotype
  • Prospective Studies
  • Risk Factors
  • Time Factors
  • Urogenital Abnormalities / classification
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / epidemiology
  • Urogenital Abnormalities / genetics
  • Vesico-Ureteral Reflux / classification
  • Vesico-Ureteral Reflux / diagnosis*
  • Vesico-Ureteral Reflux / epidemiology
  • Vesico-Ureteral Reflux / genetics

Supplementary concepts

  • Cakut