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成人常染色体显性遗传性多囊肾病合并Ⅰ型糖尿病患者的胰肾联合移植:术后情况及遗传学综述

Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.

作者信息

Al Alawi Intisar, Mohammed Ehab, Al Rahbi Fatma, Metry AbdelMasieh, Hannawi Suad, Al Salmi Issa

机构信息

National Genetic Centre, Royal Hospital, Muscat, Oman.

Department of Renal Medicine, Royal Hospital, Muscat, Oman.

出版信息

Oman Med J. 2024 May 30;39(3):e636. doi: 10.5001/omj.2024.18. eCollection 2024 May.

Abstract

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.

摘要

常染色体显性多囊肾病(ADPKD)是一种常见的遗传性疾病,其特征是双侧肾脏出现多个囊肿。我们描述了一名35岁男性的病例,他同时患有ADPKD和1型糖尿病,且两者都有很强的家族病史。32岁时,他发展为终末期肾病,为此接受了先发制的胰肾联合移植,这反过来又导致了多种围手术期并发症。在遗传流行病学和精准医学中,评估遗传疾病的家族聚集性至关重要,因为它能够估计终生疾病风险,并在一个人的兄弟姐妹中进行疾病的早期评估和检测。

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Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.阿曼遗传性囊性肾病患者的分子遗传学诊断
Kidney Int Rep. 2019 Aug 30;4(12):1751-1759. doi: 10.1016/j.ekir.2019.08.012. eCollection 2019 Dec.
4
Polycystic kidney disease.多囊肾病。
Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y.
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The mutation, a key determinant of phenotype in ADPKD.该突变是常染色体显性多囊肾病表型的关键决定因素。
J Am Soc Nephrol. 2013 May;24(6):868-70. doi: 10.1681/ASN.2013040417. Epub 2013 May 16.

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