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Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants
Waleed Al-Amoudi1, Raghad Alhuthil2, Abdulrahman Alnwiji1
1College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, alfaisal.edu.
Denys-Drash syndrome (DDS) is a rare genetic disorder affecting children. Early diagnosis and multidisciplinary care are crucial for managing WT1 gene mutations and improving outcomes in affected individuals.
Area of Science:
- Genetics
- Pediatric Nephrology
- Rare Diseases
Background:
- Denys-Drash syndrome (DDS) is a rare genetic disorder.
- Characterized by Wilms tumor suppressor gene (WT1) mutations.
- Leads to nephrotic syndrome, Wilms tumor, and ambiguous genitalia.
Purpose of the Study:
- Illustrate the complexity and variability of Denys-Drash syndrome.
- Highlight challenges in diagnosis and management.
- Emphasize the need for personalized therapeutic approaches.
Main Methods:
- Presented two pediatric cases of Denys-Drash syndrome.
- Conducted genetic analysis to identify WT1 variants.
- Reviewed clinical presentations and outcomes.
Main Results:
- Identified pathogenic WT1 variants in both pediatric cases.
- Demonstrated varied clinical presentations, including ambiguous genitalia and Wilms tumor.
- Highlighted treatment delays and poor outcomes in these cases.
Conclusions:
- Early diagnosis and multidisciplinary management are vital for DDS.
- Personalized therapeutic strategies are essential.
- Bilateral nephrectomy, renal transplantation, and Wilms tumor monitoring are key for prognosis.
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