Department of Medicine, Northeast Ohio Medical University, Rootstown, OH 44272, USA.
Akron Nephrology Associates, Cleveland Clinic Akron General Medical Center, Akron, OH 44307, USA.
Cells. 2024 Nov 11;13(22):1866. doi: 10.3390/cells13221866.
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of diseases with differing mechanisms, clinical presentations, and prognoses. With an estimated prevalence of between 4 and 60 per 10,000 births, CAKUT represents a sizable number of patients for pediatric and adult nephrologists as therapies have progressed, allowing longer life spans. Many CAKUT disorders are associated with genetic mutations, and with advances in genomic sequencing, these genes are being identified at an increasing rate. Understanding these mutations provides insight into these conditions' molecular mechanisms and pathophysiology. In this article, we discuss the epidemiology, presentation, and outcomes of CAKUT in addition to our current understanding of genetic and molecular mechanisms in these diseases.
先天性肾和尿路异常（CAKUT）是一组具有不同发病机制、临床表现和预后的广泛疾病。CAKUT 的估计患病率在每 10000 例出生中为 4 至 60 例，随着治疗方法的进步，CAKUT 为儿科和成人肾病学家带来了大量患者，使他们的寿命延长。许多 CAKUT 疾病与基因突变有关，随着基因组测序的进步，这些基因的识别率正在不断提高。了解这些突变为这些疾病的分子机制和病理生理学提供了深入的认识。在本文中，我们讨论了 CAKUT 的流行病学、表现和结局，以及我们目前对这些疾病遗传和分子机制的理解。
