- Design
- Narrative review
- Population
- Children and adults with congenital anomalies of the kidney and urinary tract
- Primary outcome
- Causes, genetics and long-term kidney and extrarenal outcomes
- Effect
- Birth prevalence 3.83/1,000; ~20% genetic; average KRT start ~31 years
This Kidney International review summarises congenital anomalies of the kidney and urinary tract (CAKUT), which account for 20–30% of prenatal anomalies, with a birth prevalence of about 3.8 per 1,000. Genetic causes underlie about a fifth of cases, notably HNF1B and PAX2 variants and copy number changes, particularly in syndromic disease.
Kidney dysplasia or hypoplasia and lower urinary tract obstruction are the commonest causes of childhood CKD. Damage progresses slowly: the need for kidney replacement therapy peaks in adolescence, but the average start is around 31 years. Patients carry raised cardiovascular and metabolic risk, neurocognitive impairment and a small excess cancer risk.
For adult nephrologists, a young adult with unexplained CKD may have undiagnosed CAKUT. Genetic testing is worthwhile in severe, syndromic, familial or bilateral dysplasia and in idiopathic CKD reaching kidney replacement therapy.
- Consider CAKUT in young adults with unexplained CKD, especially with a childhood history of urinary problems.
- Offer genetic testing in syndromic, familial, bilateral or severe dysplasia.
- Screen CAKUT patients for cardiovascular and metabolic risk factors.
- Plan structured transition from paediatric to adult kidney care.
- HNF1B variants can also cause diabetes and abnormal liver tests — look beyond the kidney.
Why it matters
Many adults with CAKUT are seen without the diagnosis being made, missing genetic counselling and targeted follow-up.
Read the rest in the app
You have read your two free briefings this month. The app carries all 27 specialties, every morning, free — and this finding is waiting in it.
Scan to keep reading on your phone. No account needed to start.
Tomorrow morning, before your first patient
One edition a day for nephrology, written by the desk, every claim tied to its paper. Six minutes.
Get the app — free