Al Alawi Intisar, Mohammed Ehab, Al Rahbi Fatma, Metry AbdelMasieh, Hannawi Suad, Al Salmi Issa
National Genetic Centre, Royal Hospital, Muscat, Oman.
Department of Renal Medicine, Royal Hospital, Muscat, Oman.
Oman Med J. 2024 May 30;39(3):e636. doi: 10.5001/omj.2024.18. eCollection 2024 May.
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.
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。