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Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
- Source :
-
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2012 Mar; Vol. 27 (3), pp. 397-406. Date of Electronic Publication: 2011 Oct 21. - Publication Year :
- 2012
-
Abstract
- Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly (n = 24), collecting system abnormalities (n = 14), cryptorchidism (n = 11), nephrolithiasis (n = 5), cysts (n = 5), and dysplasia (n = 1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWS(IC1) group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWS(UPD) and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWS(IC2) had renal findings (p = 0.003). Cryptorchidism was associated with abdominal wall defects (p < 0.001) appearing more frequently in BWS(IC2) (p = 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation.
- Subjects :
- Adolescent
Beckwith-Wiedemann Syndrome complications
Beckwith-Wiedemann Syndrome genetics
Child
Child, Preschool
Female
Genotype
Humans
Hypercalciuria etiology
Infant
Kidney pathology
Male
Phenotype
Retrospective Studies
Urinary Tract Infections etiology
Beckwith-Wiedemann Syndrome pathology
Kidney abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1432-198X
- Volume :
- 27
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Pediatric nephrology (Berlin, Germany)
- Publication Type :
- Academic Journal
- Accession number :
- 22015620
- Full Text :
- https://doi.org/10.1007/s00467-011-2009-4