Kidney Anomalies in a Person with Kabuki Syndrome

Thanks given to 'Supporting Aussie Kids with Kabuki Syndrome' (SAKKS) for making article available.

kidney normalApproximately 25% of persons with Kabuki Syndrome can present with renali anomalies. They represent anatomical abnormalities in foetal development and may cause clinical problems over a wide range of severity. Anomalies that have been reported include hydronephrosisi (associated with obstruction of the urinary tract or vesico-reteric refluxi), ectopici kidneys, horseshoe kidney (fusioni abnormalities), renal dysplasiai (and probably renal agenesisi) and ureteric duplication.

kidney ectopicMany of these anomalies may be asymptomatic but they do carry an increased risk for urinary tract infection and less frequently renal calculi. Kidney damage may arise from these problems and occasionally surgery is indicated. Renal tract ultrasound to detect anomalies is justified and appropriate screening for urine infection should be undertaken if anomalies are identified. Referral to a urologist or nephrologist may be needed where severe or complex abnormalities are present.

kidney horseshoeSignificant loss of renal function is uncommon in Kabuki Syndrome patients but when present has usually been associated with congenitali renal dysplasia (sometimes in a single kidney). A very small number of individuals have been reported to reach end-stage kidney failure. Dialysis and kidney transplantation have been successfully performed.