Diagnosis typically involves a combination of clinical features and genetic testing. A pediatrician may first suspect DDS based on the presence of nephrotic syndrome and ambiguous genitalia. Confirmation is achieved through genetic testing to identify mutations in the WT1 gene. Additional diagnostic tools may include:
Ultrasound: To detect kidney abnormalities and potential tumors. Biopsy: To assess kidney tissue and confirm the type of glomerulopathy. Blood tests: To evaluate kidney function and check for protein levels.
