Case Report
JBCGenetics. 2018; 1(2): 84-86

Denys-Drash Syndrome: a case report

Authors: Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1542382146

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.


© Copyright: Author(s)

Denys-Drash Syndrome: a case report


Authors
Ahmed AbuAlreesh
Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Zuhair A Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Rayah Asiri
College of Pharmacy, King Khalid University, Abha, Saudi Arabia
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Correspondence to:
. Ahmed AbuAlreesh, Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia; ahmedaboalreesh1989@gmail.com

Publication history
Received 16 Nov 2018
Revised 10 Dec 2018
Accepted 08 Jan 2019
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

AbuAlreesh A, Rahbeeni ZA, Asiri R. Denys-Drash Syndrome: a case report. JBCGenetics. 2018; 1(2): 84-86. doi:10.24911/JBCGenetics/183-1542382146


Web Style

AbuAlreesh A, Rahbeeni ZA, Asiri R. Denys-Drash Syndrome: a case report. https://www.jbcgenetics.com//?mno=17515 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1542382146


AMA (American Medical Association) Style

AbuAlreesh A, Rahbeeni ZA, Asiri R. Denys-Drash Syndrome: a case report. JBCGenetics. 2018; 1(2): 84-86. doi:10.24911/JBCGenetics/183-1542382146


Vancouver/ICMJE Style

AbuAlreesh A, Rahbeeni ZA, Asiri R. Denys-Drash Syndrome: a case report. JBCGenetics. (2018), [cited December 08, 2021]; 1(2): 84-86. doi:10.24911/JBCGenetics/183-1542382146


Harvard Style

AbuAlreesh, A., Rahbeeni, . Z. A. & Asiri, . R. (2018) Denys-Drash Syndrome: a case report. JBCGenetics, 1 (2), 84-86. doi:10.24911/JBCGenetics/183-1542382146


Turabian Style

AbuAlreesh, Ahmed, Zuhair A Rahbeeni, and Rayah Asiri. 2018. Denys-Drash Syndrome: a case report. Journal of Biochemical and Clinical Genetics, 1 (2), 84-86. doi:10.24911/JBCGenetics/183-1542382146


Chicago Style

AbuAlreesh, Ahmed, Zuhair A Rahbeeni, and Rayah Asiri. "Denys-Drash Syndrome: a case report." Journal of Biochemical and Clinical Genetics 1 (2018), 84-86. doi:10.24911/JBCGenetics/183-1542382146


MLA (The Modern Language Association) Style

AbuAlreesh, Ahmed, Zuhair A Rahbeeni, and Rayah Asiri. "Denys-Drash Syndrome: a case report." Journal of Biochemical and Clinical Genetics 1.2 (2018), 84-86. Print. doi:10.24911/JBCGenetics/183-1542382146


APA (American Psychological Association) Style

AbuAlreesh, A., Rahbeeni, . Z. A. & Asiri, . R. (2018) Denys-Drash Syndrome: a case report. Journal of Biochemical and Clinical Genetics, 1 (2), 84-86. doi:10.24911/JBCGenetics/183-1542382146


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