Renal and urology:

Neonatal guidance:

Several congenital anomalies of the renal and urinary tract have been reported in children with Down syndrome, the most common of these being renal hypoplasia, obstructive uropathy including posterior urethral valves, glomerular microcysts, hypospadias and undescended testicles.  Some abnormalities may be picked up on antenatal scans and should be dealt with as appropriate.  There is no evidence at present to recommend routine postnatal screening for renal tract abnormalities.  A careful examination of genital area should be performed.  Check that the antenatal scans of the renal tract were reported as normal and that the baby passes urine normally.  If in any doubt request a renal tract scan.


Infancy, Childhood and onwards:

  • Renal and genitourinary disorders are not common in children or adults with Down syndrome but yet not rare. 2% of children with Down syndrome have renal and urinary tract abnormality. There is no evidence to screen or investigate in the absence of symptoms.

  • All children with Down syndrome presenting with urinary tract infections, should be investigated with a renal ultrasound scan to detect any renal and urinary tract anomalies, or renal scarring.

  • Children presenting with bedwetting, difficulty in voiding, poor stream, post void dribbling or retention of urine should be investigated with an ultrasound of the urinary tract to detect any renal anomalies or a dysfunctional bladder.

  • There is an increased prevalence of undescended testis in Down syndrome. This contributes to an increased lifetime risk of testicular cancer. Regular examination of the testis throughout adulthood is recommended, particularly with a history of undescended testis.

  • Check for undescended testes at 3 months and every review thereafter - advise parents for an annual birthday check for undescended testes (as even surgically corrected testis can later become undescended and are at greater risk of tumours).

https://www.dsmig.org.uk/information-resources/by-topic/renal-disorders/#:~:text=Overview,in%20the%20absence%20of%20symptoms.

https://www.dsmig.org.uk/wp-content/uploads/2016/01/Dsmig-june-2012-Pat-Malone-Urinary-Tract-Anomalies-in-Down-Syndrome.pdf

Urinary Tract Anomalies in Down Syndrome To screen or not to screen?

Genitourinary Anomalies 3% - 16% • Upper Urinary Tract – most common Renal agenesis/hypoplasia/cysts

www.dsmig.org.uk

Rossetti et al. (2024) 50:79 https://doi.org/10.1186/s13052-024-01636-7 Kidney and urogenital abnormalities in Down syndrome: a meta-analysis .Italian Journal of Pediatrics

Ariel I, Wells TR, Landing BH, Singer DB. (1991) The urinary system in Down syndrome: A study of 124 autopsy cases. Pediatr Pathol; 11: 879

 

References:

Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure

Pediatr Nephrol . 2024 Feb;39(2):347-355.  

doi: 10.1007/s00467-023-05986-y. Epub 2023 Jun 29.