Case Report
Volume: 1 | Issue: 2 | Published: Jun 08, 2018 | Pages: 84 - 86 | DOI: 10.24911/JBCGenetics/183-1542382146
Denys-Drash Syndrome: a case report
Authors:
Ahmed AbuAlreesh
, Zuhair A Rahbeeni
, Rayah Asiri
Article Info
Authors
Ahmed AbuAlreesh
Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia
Zuhair A Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Rayah Asiri
College of Pharmacy, King Khalid University, Abha, Saudi Arabia
Publication History
Received: November 16, 2018
Revised: December 10, 2018
Accepted: January 08, 2019
Published: June 08, 2018
Abstract
Background: Denys-Drash syndrome (DDS) is a very rare genetic disease. Wilms' tumor, genital abnormalities, and congenital glomerulopathy are the main features of DDS which resulted from a heterozygous mutation in the WT1 gene. Case Presentation: First case of DDS has been diagnosed in Saudi Arabia in four months newborn who admitted to nephrology department with ambiguous bilateral undescended testis, and nephropathy. On admission, he had normal vital signs except high blood pressure. His kidney function tests showed abnormal kidney function. Ultrasonography and MRI were done to figure out his nephropathy and undescended testis, respectively. Both Abdominal ultrasonography and kidney histopathology confirmed diffuse mesangial sclerosis (DMS). MRI graph located the un-identical ectopic testis. The autosomal dominant inherited pathogenic missense mutation in exon 9 of WT1 gene (c.1181G>A (p.Arg394GLu)) was confirmed by DNA direct sequencing analysis. At his 4th year of age, his nephropathy developed to End Stage Renal Disease (ESRD). Conclusion: DDS should be considered in new born baby with nephrotic syndrome and ambiguous gonads. DNA direct sequencing analysis for WT1 gene is very helpful for confirmation of DDS.
Keywords: Denys-Drash Syndrome, DDS, WT1 gene, Wilm's tumor, nephropathy, diffuse mesangial sclerosis, DMS, undescended testis
Pubmed Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. Denys-Drash Syndrome: a case report. JBC Genetics. 2018; 08 (June 2018): 84-86. doi:10.24911/JBCGenetics/183-1542382146
Web Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. Denys-Drash Syndrome: a case report. https://www.jbcgenetics.com/articles/2117 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1542382146
AMA (American Medical Association) Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. Denys-Drash Syndrome: a case report. JBC Genetics. 2018; 08 (June 2018): 84-86. doi:10.24911/JBCGenetics/183-1542382146
Vancouver/ICMJE Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. Denys-Drash Syndrome: a case report. JBC Genetics. (2018), [cited April 27, 2025]; 08 (June 2018): 84-86. doi:10.24911/JBCGenetics/183-1542382146
Harvard Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri (2018) Denys-Drash Syndrome: a case report. JBC Genetics, 08 (June 2018): 84-86. doi:10.24911/JBCGenetics/183-1542382146
Chicago Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. "Denys-Drash Syndrome: a case report." 08 (2018), 84-86. doi:10.24911/JBCGenetics/183-1542382146
MLA (The Modern Language Association) Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri. "Denys-Drash Syndrome: a case report." 08.June 2018 (2018), 84-86. Print. doi:10.24911/JBCGenetics/183-1542382146
APA (American Psychological Association) Style
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri (2018) Denys-Drash Syndrome: a case report. , 08 (June 2018), 84-86. doi:10.24911/JBCGenetics/183-1542382146