Anomalies of the kidney and urinary tract are common in de Lange syndrome

Angelo Selicorni, Cinzia Sforzini, Donatella Milani, Giacomo Cagnoli, Emilio Fossali, Mario G. Bianchetti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)395-397
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number4
Publication statusPublished - Feb 1 2005


  • De Lange syndrome
  • Kidney disease
  • Urinary tract infection

ASJC Scopus subject areas

  • Genetics(clinical)


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