Epidemiology
- Peak incidence: between 2 and 5 years
- Most common malignant neoplasm of the kidney in children
Etiology
Can be associated with loss-of-function mutations of tumor suppressor genes WT1 or WT2 on chromosome 11 (W11ms tumor).
Associated syndromes
- WAGR syndrome: Deletion of the 11p13 band leads to the deletion of the WT1 gene and other genes, such as PAX6.
- Nephroblastoma
- Aniridia
- Genitourinary anomalies
- Pseudohermaphroditism, undescended testes in males (due to gonadal dysgenesis)
- Early-onset nephrotic syndrome
- Range of intellectual disability
- Denys-Drash syndrome: a mild form of WAGR without aniridia or intellectual disability.
- Nephroblastoma
- Pseudohermaphroditism, undescended testes in males (due to gonadal dysgenesis)
- Early-onset nephrotic syndrome caused by diffuse mesangial sclerosis
- Beckwith-Wiedemann syndrome: mutations of the WT2 gene
Pathophysiology
Clinical features
Abdominal symptoms
- Palpable abdominal mass (often found incidentally)
- Non-tender
- Unilateral and large but not crossing midline
- Smooth and firm
- Abdominal pain (∼ 40% of cases)
Other signs and symptoms
- Hematuria (∼ 25% of cases)
- Hypertension (∼ 25% of cases)
Tip
Nephroblastoma should be suspected in a toddler with a non-tender abdominal mass, especially if it is firm, smooth, and associated with hematuria and/or hypertension.
Warning
Careless palpation of a nephroblastoma can result in rupture of the renal capsule and tumor spillage!
Diagnostics
Treatment
<% tp.file.cursor() %>