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/...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-02-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1101079/full |
| _version_ | 1828011251833241600 |
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| author | Shaofang Huang Kangxiang Xu Yuqi Xu Lu Zhao Xiaoju He |
| author_facet | Shaofang Huang Kangxiang Xu Yuqi Xu Lu Zhao Xiaoju He |
| author_sort | Shaofang Huang |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-10T09:12:28Z |
| format | Article |
| id | doaj.art-b94f735f5a1a4238a74befad61adeeb6 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-10T09:12:28Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-b94f735f5a1a4238a74befad61adeeb62023-02-21T04:49:41ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-02-011010.3389/fmed.2023.11010791101079TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case reportShaofang Huang0Kangxiang Xu1Yuqi Xu2Lu Zhao3Xiaoju He4Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Nanchang University, Nanchang, ChinaSecond Clinical Medical College, Nanchang University, Nanchang, ChinaDepartment of Obstetrics and Gynecology, The Second Affiliated Hospital of Nanchang University, Nanchang, ChinaDepartment of Obstetrics and Gynecology, The Second Affiliated Hospital of Nanchang University, Nanchang, ChinaDepartment of Obstetrics and Gynecology, The Second Affiliated Hospital of Nanchang University, Nanchang, ChinaTSC2/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.https://www.frontiersin.org/articles/10.3389/fmed.2023.1101079/fullTSC2/PKD1 contiguous gene deletionspregnant womanrenal angiomyolipomatuberous sclerosispolycystic kidney diseaseprenatal diagnosis |
| spellingShingle | Shaofang Huang Kangxiang Xu Yuqi Xu Lu Zhao Xiaoju He TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report Frontiers in Medicine TSC2/PKD1 contiguous gene deletions pregnant woman renal angiomyolipoma tuberous sclerosis polycystic kidney disease prenatal diagnosis |
| 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 | TSC2/PKD1 contiguous gene deletions pregnant woman renal angiomyolipoma tuberous sclerosis polycystic kidney disease prenatal diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1101079/full |
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