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TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report
TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988899/ https://www.ncbi.nlm.nih.gov/pubmed/36895714 http://dx.doi.org/10.3389/fmed.2023.1101079 |
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author | Huang, Shaofang Xu, Kangxiang Xu, Yuqi Zhao, Lu He, Xiaoju |
author_facet | Huang, Shaofang Xu, Kangxiang Xu, Yuqi Zhao, Lu He, Xiaoju |
author_sort | Huang, Shaofang |
collection | PubMed |
description | TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/PKD1 contiguous gene deletions in a pregnant woman. The patient had multiple renal cysts, angiomyolipoma, hypomelanotic macules, shagreen patch, subependymal giant cell astrocytoma, multiple cortical tubers, and subependymal nodules. The patient underwent genetic testing. To exclude genetic defects in the fetus, prenatal fetal genetic testing was performed after obtaining the patient’s consent. We found an increasing trend in the size of renal cysts and renal angiomyolipomas in patients with polycystic kidney with tuberous sclerosis during pregnancy. Through enhanced clinical monitoring of patients and prenatal genetic testing of the fetus, timely and effective clinical intervention for the mother may be achieved, thus obtaining the best possible outcome for both mother and fetus. |
format | Online Article Text |
id | pubmed-9988899 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-99888992023-03-08 TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report Huang, Shaofang Xu, Kangxiang Xu, Yuqi Zhao, Lu He, Xiaoju Front Med (Lausanne) Medicine TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/PKD1 contiguous gene deletions in a pregnant woman. The patient had multiple renal cysts, angiomyolipoma, hypomelanotic macules, shagreen patch, subependymal giant cell astrocytoma, multiple cortical tubers, and subependymal nodules. The patient underwent genetic testing. To exclude genetic defects in the fetus, prenatal fetal genetic testing was performed after obtaining the patient’s consent. We found an increasing trend in the size of renal cysts and renal angiomyolipomas in patients with polycystic kidney with tuberous sclerosis during pregnancy. Through enhanced clinical monitoring of patients and prenatal genetic testing of the fetus, timely and effective clinical intervention for the mother may be achieved, thus obtaining the best possible outcome for both mother and fetus. Frontiers Media S.A. 2023-02-21 /pmc/articles/PMC9988899/ /pubmed/36895714 http://dx.doi.org/10.3389/fmed.2023.1101079 Text en Copyright © 2023 Huang, Xu, Xu, Zhao and He. https://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 | Medicine Huang, Shaofang Xu, Kangxiang Xu, Yuqi Zhao, Lu He, Xiaoju TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title_full | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title_fullStr | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title_full_unstemmed | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title_short | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report |
title_sort | tsc2/pkd1 contiguous deletion syndrome in a pregnant woman: a case report |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988899/ https://www.ncbi.nlm.nih.gov/pubmed/36895714 http://dx.doi.org/10.3389/fmed.2023.1101079 |
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