2024 年 59 巻 4 号 p. 309-313
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common causes of end-stage renal disease (ESRD) in children. These anomalies are primarily caused by disruptions in kidney development due to genetic abnormalities or environmental factors. The genetic factors associated with CAKUT include single-gene mutations, copy number variants, and single nucleotide polymorphisms. Recent advancements in genetic analysis technologies have facilitated the integration of genetic testing into clinical practice for patients with CAKUT. However, genetic diagnosis does not always provide direct benefits in clinical decision-making for CAKUT patients. This is because genetic analysis is generally performed to confirm diagnoses, whereas CAKUT diagnoses are often established through imaging studies prior to genetic testing. Consequently, genetic testing may not contribute additional diagnostic information in many cases. On the other hand, CAKUT can present with extrarenal manifestations, and in some cases, identifying the causative gene may offer valuable insights for patient management. Thus, establishing standardized criteria for genetic testing in CAKUT remains challenging. A careful assessment of the benefits and limitations of genetic testing is necessary on a case-by-case basis to determine its utility in clinical care.
