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[Renal abnormalities in Down syndrome: A review]

C Niamien-Attai1, J Bacchetta2, B Ranchin3

  • 1Service de pédiatrie médicale, unité de néphrologie pédiatrique, centre hospitalier universitaire de Yopougon, 21 BP 632, Abidjan 21, Côte d'Ivoire; Centre de référence des maladies rénales rares néphrogones, hôpital Femme-Mère-Enfant de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|September 13, 2017
PubMed

Insights

Kidney damage is common in Down syndrome (DS), with various congenital abnormalities and early histological lesions. Early screening with renal ultrasound is recommended to preserve kidney function and prevent chronic renal failure.

Area of Science:

  • Nephrology
  • Pediatrics
  • Genetics

Background:

  • Down syndrome (DS) is primarily known for cardiac malformations, with renal complications often overlooked.
  • Congenital abnormalities of the kidney and urinary tract (CAKUT) and specific renal pathologies are prevalent in DS patients.

Purpose of the Study:

  • To document the range of renal abnormalities in Down syndrome.
  • To investigate the progression of these abnormalities towards chronic kidney disease.
  • To highlight the importance of early renal assessment in DS.

Main Methods:

  • Review of congenital abnormalities of the kidney and urinary tract (CAKUT) in DS patients.
  • Analysis of contributing factors to acute kidney injury in DS.
  • Examination of histological lesions and metabolic specificities (uric acid, hypercalciuria).

Main Results:

  • Frequent CAKUT observed: pyelectasis, megaureters, posterior urethral valves.
  • Renal malformations include hypoplasia, horseshoe kidney, and ectopia.
  • Early, nonspecific histological lesions and metabolic alterations (decreased uric acid clearance, hypercalciuria) are noted.

Conclusions:

  • Renal abnormalities in Down syndrome require awareness for optimal prognosis.
  • Systematic renal ultrasound screening is advisable for early detection and management.
  • Proactive management is crucial to prevent progression to end-stage renal disease.

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