Anomalies of the kidney and urinary tract are common in de Lange syndrome
| Autor: | Giacomo Cagnoli, Angelo Selicorni, Emilio F. Fossali, Mario G. Bianchetti, Donatella Milani, Cinzia Sforzini |
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| Rok vydání: | 2005 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Urinary system Urology Renal function Kidney urologic and male genital diseases Vesicoureteral reflux chemistry.chemical_compound De Lange Syndrome Internal medicine Genetics medicine Humans Cyst Child Urinary Tract Genetics (clinical) Creatinine Renal ectopia business.industry medicine.disease Proteinuria Endocrinology medicine.anatomical_structure chemistry Child Preschool Female business Glomerular Filtration Rate Kidney disease |
| Zdroj: | American Journal of Medical Genetics Part A. :395-397 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.30445 |
| Popis: | Sixty-one patients affected by de Lange syndrome underwent a careful renal and urological evaluation including family and personal history, physical examination, urinalysis, renal tract ultrasonography, and serum creatinine. A voiding cystourethrography was performed in patients with urinary tract infections, in patients with renal ectopy, and in patients with small kidneys. Structural anomalies of the kidney and urinary tract were detected either by ultrasound or voiding cystourethrography in 25 patients (41%): absent or poor corticomedullary differentiation (N = 8; 13%), pelvic dilation (N = 6; 10%), vesicoureteral reflux (N = 5; 8%), small kidney (N = 3; 5%), isolated renal cyst (N = 3; 5%), and renal ectopia (N = 2; 3%). Renal function was normal in 52 patients (85%) but reduced in 9 patients (15%) with renal tract abnormalities. Overt proteinuria was disclosed in three patients with impaired renal function. |
| Databáze: | OpenAIRE |
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