Case reports in endocrinology · 2026
Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.
СтатьяНазвание и аннотация: Перевод в очереди
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Al-Amoudi Waleed, Alhuthil Raghad, Alnwiji Abdulrahman, Alqarni Megren S, Murad Sarah, Alsagheir Afaf
Аннотация
BACKGROUND: Denys-Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end-stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia. We present two pediatric cases illustrating the complexity and variability of DDS.
CASE PRESENTATION: The first case is a 7-month-old male presenting with ambiguous genitalia, nephropathy, and intussusception. Genetic analysis identified a likely pathogenic heterozygous WT1 variant: c.1384C >T (p.Gln462Ter). Despite surgical interventions, treatment was delayed due to COVID-19 restrictions, and the patient unfortunately passed away at 16 months during the lockdown period. The second case involves an 8-month-old female with normal external genitalia, a horseshoe kidney, bilateral renal masses, and recurrent hypotensive episodes. Genetic testing revealed a pathogenic heterozygous WT1 variant: c.453G >A (p.Trp151Ter). She was diagnosed with DDS-associated Wilms tumor and, despite aggressive management, passed away at 21 months.
CONCLUSION: These cases underscore the importance of early diagnosis, multidisciplinary management, and personalized therapeutic approaches in DDS patients. Bilateral nephrectomy, renal transplantation, and monitoring for Wilms tumor are pivotal in improving prognosis, though variability in clinical presentations often complicates decision-making.
CASE PRESENTATION: The first case is a 7-month-old male presenting with ambiguous genitalia, nephropathy, and intussusception. Genetic analysis identified a likely pathogenic heterozygous WT1 variant: c.1384C >T (p.Gln462Ter). Despite surgical interventions, treatment was delayed due to COVID-19 restrictions, and the patient unfortunately passed away at 16 months during the lockdown period. The second case involves an 8-month-old female with normal external genitalia, a horseshoe kidney, bilateral renal masses, and recurrent hypotensive episodes. Genetic testing revealed a pathogenic heterozygous WT1 variant: c.453G >A (p.Trp151Ter). She was diagnosed with DDS-associated Wilms tumor and, despite aggressive management, passed away at 21 months.
CONCLUSION: These cases underscore the importance of early diagnosis, multidisciplinary management, and personalized therapeutic approaches in DDS patients. Bilateral nephrectomy, renal transplantation, and monitoring for Wilms tumor are pivotal in improving prognosis, though variability in clinical presentations often complicates decision-making.