Division of Medical Genetics, Department of Genetics and Genomic Sciences/Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY.
Division of Nephrology, Department of Medicine, Albert Einstein College of Medicine, Jacobi Medical Center, Bronx, NY.
Semin Nephrol. 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007.
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases.
遗传性肾病约占需要肾脏替代治疗的成人和几乎所有儿童的 10%。技术进步提高了我们进行基因诊断的能力,并增强了我们对肾脏和综合征疾病的理解。在本文中,我们回顾了肾脏疾病的遗传学,包括常见的单基因疾病,如多囊肾病、Alport 综合征和 Fabry 病,以及复杂疾病,如肾和尿路的先天性异常。我们为肾病学家提供了一种一般性策略来处理遗传性疾病,其中包括讨论常用的基因检测、遗传咨询指南以及有风险的夫妇的产前诊断或胚胎植入前基因诊断等生殖选择。最后,我们回顾了某些肾脏疾病的妊娠结局。