THE RENAL SPECTRUM OF PATIENTS WITH WILLIAMS SYNDROME

Abstract

We assessed the prevalence of renal abnormalities in children with Williams syndrome and heart disease. Of 32 patients (pts) followed by the Cardiology Service, 17 were male. Median age was 19 years (range 1.5-48 years). In 9 pts, limited information was available from chart review; in the remaining 23, renal structure and function were evaluated by urinalysis, BUN, creatinine and ultrasound or intravenous pyelography (IVP). Systemic arterial hypertension was present in 19 (59%) of the 32 pts. Among the 13 pts whose hypertension was severe enough to warrant renal arteriography, 8 (25% of all pts)were demonstrated to have renal artery stenosis. Albuminuria was present in 33% (8/24) of the pts in whom urinalysis was performed. Among the 23 pts who were studied with either IVP or renal ultrasound, 8 had structural abnormalities; 3 had a single kidney, 2 unusually small kidneys, 2 calcium-related nephrocalcinosis and end-stage renal disease, and 1 scarred kidneys secondary to reflux nephropathy. Pts with Williams syndrome had a relative risk of single kidney, which was at least 47 times that of the general population (p<.0001). In toto, 16 pts had known renal abnormalities, constituting 70% of those who underwent renal study and 50% of all 32 pts (presumed lower limit of prevalence). Our data suggest that the prevalence of significant renal abnormalities in pts with Williams syndrome is high; screening and prospective follow-up for renal abnormalities should be performed in all pts with Williams syndrome.