家庭复发性胎怀孕:KHDC3L基因突变阳性
Abhipsa Rath1, Pruthwiraj Sethi2, Saubhagya Kumar Jena2
1Obstetrics & Gynaecology, AIIMS Bhubaneswar, Bhubaneswar, India dr.abhipsarath@gmail.com.
BMJ case reports
|November 2, 2023
概括
在姐妹身上发现了家族性复发性水性形,一种罕见的自体逆行性疾病. 基因分析揭示了同卵性KHDC3L基因突变,指导生育咨询和治疗选择.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 人类遗传学 人类遗传学
- 孕产妇和胎儿医学 孕产妇和胎儿医学
背景情况:
- 复发的水形包括一个患者的多胞胎怀孕.
- 家庭病例很少见,通常是以自身相对递归模式遗传的.
研究的目的:
- 为了呈现一个家族复发的完整的胎怀孕的案例.
- 突出这一罕见疾病的遗传基础和治疗方法.
主要方法:
- 临床病例介绍,一个患者连续四次完整的胎怀孕.
- 吸血和疏散后的血清β-hCG监测.
- 基因突变的遗传分析.
主要成果:
- 这位患者连续四次完全的胎怀孕.
- 基因分析发现KHDC3L基因突变的同胞性.
- 有类似病史的姐妹被建议进行评估.
结论:
- 及时诊断和怀疑对于复发的水性形来说至关重要.
- 建议进行遗传咨询和生育选择,如用捐赠卵子进行体外受精或收养.
- 解决与反复发生的胎妊娠相关的身体和心理创伤是必不可少的.
更多相关视频
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
10.9K
06:53Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
8.7K
相关概念视频
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
02:07Tumor Progression
6.3K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.3K