[Renal abnormalities in Down syndrome: A review].

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.