B
BUDDSBarnet Unified Document
for Down Syndrome

Renal and Urology

Renal and urinary tract abnormalities, UTI investigation protocols, undescended testes monitoring, and screening guidance for children with Down Syndrome

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 the 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 they are not rare. 2% of children with Down syndrome have renal and urinary tract abnormalities. 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 testes throughout adulthood is recommended, particularly in individuals with a history of undescended testes.
  • 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).

Renal Disease in Adults/Later Life

New evidence of renal disease becoming a prominent cause of morbidity in Down Syndrome in adults/later life. Work needs to be done to raise awareness and improve the detection of this, often modifiable, disease - and the earlier the better. Renal disease is insidious, meaning it may have no symptoms for years before presenting with chronic renal disease.

It is being recommended to do a BP at all clinic reviews (which are usually annual), and for the clinician to review the results. This should be at least once a year - from early childhood onwards and into adulthood/GP reviews - in OPD, school reviews, ED, etc. It is very important that the correct cuff sizes are used.

It is also recommended to consider a renal tract Ultrasound after birth for all babies born with Down Syndrome to detect any renal anomalies early on.

Some Trusts are already screening with U and Es every year when the thyroid tests are being done - and doing a Urine Creatinine or Cystatin C, sometimes picking up raised creatinine in teenage years; however, at this point, clinicians do not know the significance of these findings yet for longer-term renal health/general well-being.

New renal guidance will become available - but after a while, as it will be a long piece of work by the Down Syndrome Medical Interest Group (DSMIG) with evidence-based research.

References