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Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations
Introduction: The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (PAX2) and in the non-muscle class I myosin, myosin 1E, (MYO1E) have been implicated in the development of steroi...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dustri-Verlag Dr. Karl Feistle
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097507/ https://www.ncbi.nlm.nih.gov/pubmed/35574290 http://dx.doi.org/10.5414/CNCS110799 |
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author | Grossman, Oulimata K. Schretlen, Claire F. Nield, Linda S. |
author_facet | Grossman, Oulimata K. Schretlen, Claire F. Nield, Linda S. |
author_sort | Grossman, Oulimata K. |
collection | PubMed |
description | Introduction: The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (PAX2) and in the non-muscle class I myosin, myosin 1E, (MYO1E) have been implicated in the development of steroid-resistant nephrotic syndrome. We describe the first case, to our knowledge, of the concordant presentation of nephrotic syndrome in twins with simultaneous mutations in PAX2 and MYO1E. Case Report: At 32 months and 33 months of age, monochorionic, diamniotic twin girls presented with nephrotic syndrome. Each twin experienced three relapses during or after completion of corticosteroid treatment. Sustained remission was achieved with tacrolimus. Genetic testing of each twin revealed two heterozygous mutations of MYO1E and one homozygous mutation of PAX2. Renal biopsy results of one twin revealed pathologic findings consistent with minimal change nephropathy. The twins’ phenotypes have been essentially identical. Conclusion: Our cases add to the scant medical literature addressing nephrotic syndrome in twins with genetic mutations. Close monitoring of our unique patients will provide novel information about the clinical significance of combined mutations in PAX2 and MYO1E. |
format | Online Article Text |
id | pubmed-9097507 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Dustri-Verlag Dr. Karl Feistle |
record_format | MEDLINE/PubMed |
spelling | pubmed-90975072022-05-13 Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations Grossman, Oulimata K. Schretlen, Claire F. Nield, Linda S. Clin Nephrol Case Stud Case Report Introduction: The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (PAX2) and in the non-muscle class I myosin, myosin 1E, (MYO1E) have been implicated in the development of steroid-resistant nephrotic syndrome. We describe the first case, to our knowledge, of the concordant presentation of nephrotic syndrome in twins with simultaneous mutations in PAX2 and MYO1E. Case Report: At 32 months and 33 months of age, monochorionic, diamniotic twin girls presented with nephrotic syndrome. Each twin experienced three relapses during or after completion of corticosteroid treatment. Sustained remission was achieved with tacrolimus. Genetic testing of each twin revealed two heterozygous mutations of MYO1E and one homozygous mutation of PAX2. Renal biopsy results of one twin revealed pathologic findings consistent with minimal change nephropathy. The twins’ phenotypes have been essentially identical. Conclusion: Our cases add to the scant medical literature addressing nephrotic syndrome in twins with genetic mutations. Close monitoring of our unique patients will provide novel information about the clinical significance of combined mutations in PAX2 and MYO1E. Dustri-Verlag Dr. Karl Feistle 2022-05-10 /pmc/articles/PMC9097507/ /pubmed/35574290 http://dx.doi.org/10.5414/CNCS110799 Text en © Dustri-Verlag Dr. K. Feistle https://creativecommons.org/licenses/by/2.5/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Grossman, Oulimata K. Schretlen, Claire F. Nield, Linda S. Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title | Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title_full | Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title_fullStr | Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title_full_unstemmed | Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title_short | Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations |
title_sort | concordant nephrotic syndrome in twins with pax2 and myo1e mutations |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097507/ https://www.ncbi.nlm.nih.gov/pubmed/35574290 http://dx.doi.org/10.5414/CNCS110799 |
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