Staff View: Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome

Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome

Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS...

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Main Authors:	Karmila, Abu Bakar, Yap, Y. C., Appadurai, M., Oh, L., Fazarina, M., Abd Ghani, F., Mohd Ariffin, Hany
Format:	Article
Published:	Taylor & Francis 2021
Subjects:	RD Surgery RJ Pediatrics
Online Access:	http://eprints.um.edu.my/28767/
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spelling	my.um.eprints.287672022-04-12T07:18:27Z http://eprints.um.edu.my/28767/ Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome Karmila, Abu Bakar Yap, Y. C. Appadurai, M. Oh, L. Fazarina, M. Abd Ghani, F. Mohd Ariffin, Hany RD Surgery RJ Pediatrics Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS). Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress. Taylor & Francis 2021-04-15 Article PeerReviewed Karmila, Abu Bakar and Yap, Y. C. and Appadurai, M. and Oh, L. and Fazarina, M. and Abd Ghani, F. and Mohd Ariffin, Hany (2021) Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome. Fetal and Pediatric Pathology, 40 (2). pp. 113-120. ISSN 1551-3815, DOI https://doi.org/10.1080/15513815.2019.1686788 <https://doi.org/10.1080/15513815.2019.1686788>. 10.1080/15513815.2019.1686788
institution	Universiti Malaya
building	UM Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Malaya
content_source	UM Research Repository
url_provider	http://eprints.um.edu.my/
topic	RD Surgery RJ Pediatrics
spellingShingle	RD Surgery RJ Pediatrics Karmila, Abu Bakar Yap, Y. C. Appadurai, M. Oh, L. Fazarina, M. Abd Ghani, F. Mohd Ariffin, Hany Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
description	Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS). Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress.
format	Article
author	Karmila, Abu Bakar Yap, Y. C. Appadurai, M. Oh, L. Fazarina, M. Abd Ghani, F. Mohd Ariffin, Hany
author_facet	Karmila, Abu Bakar Yap, Y. C. Appadurai, M. Oh, L. Fazarina, M. Abd Ghani, F. Mohd Ariffin, Hany
author_sort	Karmila, Abu Bakar
title	Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
title_short	Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
title_full	Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
title_fullStr	Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
title_full_unstemmed	Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome
title_sort	focal segmental membranoproliferative glomerulonephritis: a histological variant of denys-drash syndrome
publisher	Taylor & Francis
publishDate	2021
url	http://eprints.um.edu.my/28767/
_version_	1735409576071659520
score	13.211869

Focal segmental membranoproliferative glomerulonephritis: A histological variant of denys-drash syndrome

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