title: Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.
abstract: Renal ultrasound scan, circulating creatinine and calcium, and the urinary calcium excretion rate were investigated in 57 patients with clinically and genetically typical Williams-Beuren syndrome (25 female and 32 male subjects, aged from 1.0 year to 23 years, median 8.5 years) on regular follow up at our institution. Twenty-three unilateral abnormalities were detected in 20 patients: pelvic dilatation ( n=6), renal hypoplasia ( n=5), isolated renal cyst ( n=3), kidney surface irregularity ( n=3), kidney duplication ( n=2), renal agenesis ( n=1), megaureter ( n=1), pelvic kidney dystopia ( n=1), and renal stone ( n=1). Both infantile hypercalcemia and nephrocalcinosis was absent in the 57 patients. Mild hypercalcemia was noted in 1 and mild hypercalciuria in 2 patients after the 1st year of life. In conclusion, the study indicates the frequent occurrence of intrinsic renal tract abnormalities detected by ultrasonography in Williams-Beuren syndrome. However, the study does not confirm the importance given in the past to the occurrence of hypercalcemia and hypercalciuria.
authors.affiliation: Centro di Genetica dell'Infanzia, Clinica Pediatrica I, Clinica De Marchi, Milano, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Sforzini
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Emilio
authors.initials: E
authors.lastname: Fossali
authors.forename: Anna
authors.initials: A
authors.lastname: Barbato
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Grumieri
authors.forename: Mario G
authors.initials: MG
authors.lastname: Bianchetti
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000097:blood / Q000378:metabolism* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000097:blood; D005260:Female; D005919:Glomerular Filtration Rate; D006706:Homeostasis / Q000502:physiology*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging*; D007677:Kidney Function Tests; D008297:Male; D014463:Ultrasonography; D018980:Williams Syndrome / Q000000981:diagnostic imaging* / Q000378:metabolism*
chemical_list: D003404:Creatinine; D002118:Calcium