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Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome
The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7775732/ https://www.ncbi.nlm.nih.gov/pubmed/33392118 http://dx.doi.org/10.3389/fped.2020.605889 |
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author | Cheng, Cheng Chen, Lizhi Wen, Sijia Lin, Zhilang Jiang, Xiaoyun |
author_facet | Cheng, Cheng Chen, Lizhi Wen, Sijia Lin, Zhilang Jiang, Xiaoyun |
author_sort | Cheng, Cheng |
collection | PubMed |
description | The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation. |
format | Online Article Text |
id | pubmed-7775732 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-77757322021-01-02 Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome Cheng, Cheng Chen, Lizhi Wen, Sijia Lin, Zhilang Jiang, Xiaoyun Front Pediatr Pediatrics The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation. Frontiers Media S.A. 2020-12-18 /pmc/articles/PMC7775732/ /pubmed/33392118 http://dx.doi.org/10.3389/fped.2020.605889 Text en Copyright © 2020 Cheng, Chen, Wen, Lin and Jiang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Cheng, Cheng Chen, Lizhi Wen, Sijia Lin, Zhilang Jiang, Xiaoyun Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title | Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title_full | Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title_fullStr | Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title_full_unstemmed | Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title_short | Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome |
title_sort | case report: denys–drash syndrome with wt1 causative variant presenting as atypical hemolytic uremic syndrome |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7775732/ https://www.ncbi.nlm.nih.gov/pubmed/33392118 http://dx.doi.org/10.3389/fped.2020.605889 |
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