Abstract
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 language | English |
|---|---|
| Pages (from-to) | 395-397 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 132 A |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Feb 1 2005 |
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Keywords
- De Lange syndrome
- Kidney disease
- Urinary tract infection
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Anomalies of the kidney and urinary tract are common in de Lange syndrome. / Selicorni, Angelo; Sforzini, Cinzia; Milani, Donatella; Cagnoli, Giacomo; Fossali, Emilio; Bianchetti, Mario G.
In: American Journal of Medical Genetics, Vol. 132 A, No. 4, 01.02.2005, p. 395-397.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Anomalies of the kidney and urinary tract are common in de Lange syndrome
AU - Selicorni, Angelo
AU - Sforzini, Cinzia
AU - Milani, Donatella
AU - Cagnoli, Giacomo
AU - Fossali, Emilio
AU - Bianchetti, Mario G.
PY - 2005/2/1
Y1 - 2005/2/1
N2 - 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.
AB - 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.
KW - De Lange syndrome
KW - Kidney disease
KW - Urinary tract infection
UR - http://www.scopus.com/inward/record.url?scp=12944273481&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=12944273481&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30445
DO - 10.1002/ajmg.a.30445
M3 - Article
VL - 132 A
SP - 395
EP - 397
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -