Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).
OBJECTIVE
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.
Sugayama
Sofia Mizuho Miura
SM
Genetics Clinic Unit, Department of Pediatrics, Hospital das Clínicas, Faculty of Medicine, University of São Paulo - São Paulo/SP, Brazil. sofiamms@uol.com.br
Koch
Vera Hermina Kalika
VH
Furusawa
Erica Arai
EA
Leone
Cláudio
C
Kim
Chong Ae
CA
D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006973:Hypertension / Q000175:diagnosis; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000175:diagnosis; D008297:Male; D011446:Prospective Studies; D014551:Urinary Tract / Q000002:abnormalities*; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis*