PMID- 15543398
OWN - NLM
STAT- MEDLINE
DCOM- 20061010
LR  - 20191109
IS  - 0041-8781 (Print)
IS  - 0041-8781 (Linking)
VI  - 59
IP  - 5
DP  - 2004 Oct
TI  - Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed 
      by fluorescence in situ hybridization (FISH).
PG  - 266-72
AB  - 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.
FAU - Sugayama, Sofia Mizuho Miura
AU  - Sugayama SM
AD  - Genetics Clinic Unit, Department of Pediatrics, Hospital das Clinicas, Faculty of 
      Medicine, University of Sao Paulo - Sao Paulo/SP, Brazil. sofiamms@uol.com.br
FAU - Koch, Vera Hermina Kalika
AU  - Koch VH
FAU - Furusawa, Erica Arai
AU  - Furusawa EA
FAU - Leone, Claudio
AU  - Leone C
FAU - Kim, Chong Ae
AU  - Kim CA
LA  - eng
PT  - Journal Article
DEP - 20041029
PL  - Brazil
TA  - Rev Hosp Clin Fac Med Sao Paulo
JT  - Revista do Hospital das Clinicas
JID - 0415246
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Hypertension/diagnosis
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Kidney/abnormalities
MH  - Kidney Diseases/diagnosis
MH  - Male
MH  - Prospective Studies
MH  - Urinary Tract/*abnormalities
MH  - Williams Syndrome/complications/*diagnosis
EDAT- 2004/11/16 09:00
MHDA- 2006/10/13 09:00
CRDT- 2004/11/16 09:00
PHST- 2004/11/16 09:00 [pubmed]
PHST- 2006/10/13 09:00 [medline]
PHST- 2004/11/16 09:00 [entrez]
AID - S0041-87812004000500008 [pii]
AID - 10.1590/s0041-87812004000500008 [doi]
PST - ppublish
SO  - Rev Hosp Clin Fac Med Sao Paulo. 2004 Oct;59(5):266-72. doi: 
      10.1590/s0041-87812004000500008. Epub 2004 Oct 29.