Kidney Disease Due to Caudal Regression Syndrome

Introduction: Embryonic development, influenced by fetal genetics, maternal health, and environmental factors, plays a pivotal role in shaping long-term health outcomes. Among the myriad anomalies that can arise during this process, Caudal Regression Syndrome (CRS) stands out as a rare condition characterized by developmental abnormalities affecting multiple bodily organs. While infrequent, CRS exhibits a higher prevalence among males and has been linked to maternal diabetes, vascular hypoperfusion, and genetic predispositions. Despite its potential to induce various kidney dysfunctions, CRS often evades prompt identification due to its rarity and the lack of familiarity among healthcare providers. Here, we present a compelling case of a patient with CRS who underwent intricate urological surgeries without prior awareness of her congenital condition. Case Description: A 21-year-old female sought care at our nephrology clinic for chronic kidney disease and congenital urological issues. Born without an anal opening, she required a colostomy bag and a neo bladder to manage her condition. Furthermore, she had a tethered cord, necessitating complex surgical interventions to ensure her survival into adulthood. Currently, she is managed with a neobladder/nephrostomy tube for urinary elimination. Despite these measures, her GFR has remained in the 30s, with a recent creatinine level of 2.16. Urine analysis revealed significant protein. The patient was unaware of any genetic component to her condition until recommended evaluation by a geneticist to gain further insights into her condition. Discussion: In this case, CRS poses a distinct challenge since the patient lacks maternal diabetes and has survived into adulthood. The complexity of her medical history highlights the challenges in managing CRS-related complications, especially renal dysfunction. It's crucial to recognize CRS and its impact on kidney health to provide the best possible care. The rarity of CRS underscores the importance of understanding and sharing similar cases to develop suitable treatment approaches. CRS remains a significant cause of renal dysfunction, deserving more research and clinical focus.