Cargando…

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/...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Shaofang, Xu, Kangxiang, Xu, Yuqi, Zhao, Lu, He, Xiaoju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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
_version_ 1784901666611396608
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
work_keys_str_mv AT huangshaofang tsc2pkd1contiguousdeletionsyndromeinapregnantwomanacasereport
AT xukangxiang tsc2pkd1contiguousdeletionsyndromeinapregnantwomanacasereport
AT xuyuqi tsc2pkd1contiguousdeletionsyndromeinapregnantwomanacasereport
AT zhaolu tsc2pkd1contiguousdeletionsyndromeinapregnantwomanacasereport
AT hexiaoju tsc2pkd1contiguousdeletionsyndromeinapregnantwomanacasereport