Author/Editor     Bidovec, M; Mazić, U; Kokalj-Vokač, N
Title     Pomen genetske diagnostike Williamsovega sindroma
Translated title     The significance of gene diagnostics in Williams syndrome
Type     članek
Source     In: Buturović-Ponikvar J, Bren AF, editors. Zbornik 2. slovenski nefrološki kongres z mednarodno udeležbo ob 30. letnici dialize in transplantacije ledvic v Sloveniji; 2000 sep 27-30; Brdo pri Kranju. Ljubljana: Klinični center, Klinični oddelek za nefrologijo,
Publication year     2000
Volume     str. 359-67
Language     slo
Abstract     Williams syndrome (WS) is an autosomal dominant disorder resulting from deletion of genes on the long arm of the chromosome 7q 11.23 in the locus of the elastin gene (ELN). This defect is responsible for the vascular, valvular and developmental aspects of WS. WBS is characterised by elfin face, variable mental retardation, short stature and others. In 75% of the patients we found cardiovascular anomalies such as supravalvular aortic stenosis, pulmonary valvular and artery stenosis and coarctation of the aorta. Less often we found renal artery stenosis with renovascular hypertension. Renal involvement is common. In 40% of the cases renal anomalies are detected such as ectopia, single kidney and the bladder anomalies (diverticules, vesicoureteral reflux and voiding disturbances). During the first year we can found the hypercalcaemia and hypercalciuria, which can persist even longer. In some patients hypercalcaemia may induce nephrocalcinosis. In the last years we use FISH method for detection of the elastin gene deletion with which we can conform the clinical diagnosis of the WS. This method is also used in borderline cases and it could also be used for prenatal diagnosis.
Descriptors     WILLIAMS SYNDROME
CHILD
HETEROZYGOTE DETECTION
ELASTIN
IN SITU HYBRIDIZATION, FLUORESCENCE