常染色体显性多囊肾和 I 型糖尿病成人的胰肾同时移植:手术后事件和遗传学回顾。

Q2 Medicine Oman Medical Journal Pub Date : 2024-05-30 eCollection Date: 2024-05-01 DOI:10.5001/omj.2024.18
Intisar Al Alawi, Ehab Mohammed, Fatma Al Rahbi, AbdelMasieh Metry, Suad Hannawi, Issa Al Salmi
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引用次数: 0

摘要

常染色体显性多囊肾病(ADPKD)是一种常见的遗传性疾病,其特征是肾脏中长出多个双侧囊肿。我们描述了一例 35 岁男性患者的病例,他同时患有 ADPKD 和 1 型糖尿病,并有家族遗传史。32 岁时,他患上了终末期肾病,为此他接受了先期同时进行的胰腺和肾脏移植手术,而这又导致了多种围手术期并发症。评估遗传病的家族聚集性在遗传流行病学和精准医疗中至关重要,因为它可以估算终生患病风险,并在兄弟姐妹中进行早期评估和疾病检测。
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Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition characterized by the growth of multiple bilateral cysts in the kidneys. We describe the case of a 35-year-old male with combined ADPKD and type 1 diabetes mellitus with a strong family history of both. At the age of 32, he developed end-stage kidney disease for which he underwent preemptive simultaneous pancreatic and kidney transplant, which in turn led to multiple perioperative complications. Evaluation of familial clustering of genetic disease is critical in genetic epidemiology and precision medicine as it enables estimation of lifetime disease risk and early assessment as well as detection of the disease among one's siblings.

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来源期刊
Oman Medical Journal
Oman Medical Journal Medicine-Medicine (all)
CiteScore
3.10
自引率
0.00%
发文量
119
审稿时长
12 weeks
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