Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

Abstract

PURPOSE:Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome.METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics.RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries.CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

“…11 The authors 11 This work was followed by studies on cardiovascular abnormalities, renal and urinary findings, voiding-dysfunction, cognitive and behavioral phenotype, body mass index and anthropometric measurements. [14][15][16][17][18] However, no other report of ophthalmologic findings in a Brazilian population has been published.…”

In the october 2004 issue of Clínicas

“…SUGAYAMA SMM et al 7 studied the 20 patients with the WilliamsBeuren syndrome, a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23, to determine the frequency and the types of renal and urinary tract anomalies. Twenty patients with the syndrome were included.…”

Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome

“…Urinary tract system abnormalities in WBS have been described in approximately 18% of patients 4,5,6 and include renal ectopia, hydronephrosis, renal agenesis or hypoplasia, vesicoureteral reflux, and voiding dysfunction. Nephrocalcinosis, proteinuria, and chronic renal failure have also been reported in some cases series 4,5,6 Cardiovascular abnormalities are also quite common in patients with WBS and have been observed in more than 80% of cases 7,8 . Supravalvular aortic stenosis (SVAS) is the most frequent abnormality, with an estimated incidence of 64% (9,10).…”