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Genitourinary malformations in chromosome 22q11.2 deletion
Hsi-Yang Wu1, Susan L Rusnack, Richard D Bellah
1Division of Pediatric Urology, Children's Hospital of Philadelphia, Pennsylvania, USA.
The Journal of Urology
|November 21, 2002
Summary
Genitourinary malformations are common in chromosome 22q11.2 deletion syndrome. Medical management is recommended for most renal and bladder anomalies, with surgery for specific conditions like hypospadias.
Area of Science:
- Pediatric Urology
- Clinical Genetics
Background:
- Chromosome 22q11.2 deletion is a common genetic disorder.
- Genitourinary anomalies are frequently observed in affected individuals.
Purpose of the Study:
- To review the experience with genitourinary malformations in patients with chromosome 22q11.2 deletion.
- To characterize the spectrum and management of these anomalies.
Main Methods:
- Retrospective chart review of patients attending a 22q clinic.
- Analysis of renal/bladder ultrasounds, autopsy findings, and evaluation of testicular and urethral malformations.
- Data collected between 1998 and 2000.
Main Results:
- 31% of patients (25/80) presented with structural urinary tract anomalies.
- Specific anomalies included renal agenesis, multicystic dysplastic kidney, hydronephrosis, and vesicoureteral reflux.
- Genitourinary issues in males included dysfunctional voiding (11%), undescended testes (6%), and hypospadias (8%).
Conclusions:
- Screening renal/bladder ultrasound and a detailed voiding history are crucial for managing renal and bladder anomalies in 22q11.2 deletion.
- Medical therapy is generally preferred, with surgical intervention reserved for specific conditions.
- The incidence of cryptorchidism and hypospadias requiring surgery is slightly elevated compared to the general population.