Intisar Al Alawi, Ehab Mohammed, Fatma Al Rahbi, AbdelMasieh Metry, Suad Hannawi, Issa Al Salmi
{"title":"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。","authors":"Intisar Al Alawi, Ehab Mohammed, Fatma Al Rahbi, AbdelMasieh Metry, Suad Hannawi, Issa Al Salmi","doi":"10.5001/omj.2024.18","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"1 1","pages":"e636"},"PeriodicalIF":0.0000,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11263795/pdf/","citationCount":"0","resultStr":"{\"title\":\"Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.\",\"authors\":\"Intisar Al Alawi, Ehab Mohammed, Fatma Al Rahbi, AbdelMasieh Metry, Suad Hannawi, Issa Al Salmi\",\"doi\":\"10.5001/omj.2024.18\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19667,\"journal\":{\"name\":\"Oman Medical Journal\",\"volume\":\"1 1\",\"pages\":\"e636\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11263795/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oman Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5001/omj.2024.18\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oman Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5001/omj.2024.18","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
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.