Kidney Cysts and Uncontrolled Hypertension: A Dissecting Diagnosis

Introduction: Autosomal dominant polycystic kidney disease (ADPKD), the most common genetic cause of kidney disease, is associated with cardiovascular complications. There are guidelines for screening for intracranial aneurysm (ICA), however, a paucity of research regarding the risk of extracranial aneurysms and other vascular abnormalities. Here we discuss the case of a young patient without known medical problems diagnosed simultaneously with aortic dissection and ADPKD. Case Description: A 30-year-old male presented to the ED with severe back pain. A CT scan revealed thoracic aortic abdominal dissection (TAAD) and massive enlargement of bilateral kidneys measuring 30cm and 26cm with a variety of cysts consistent with ADPKD. Of note, creatinine was 3.4 mg/dL and eGFR was 23 ml/min with unknown baseline. His blood pressure required 5 agents for control but he was in normal health prior to admission with no known medical issues. He was unaware of ADPKD diagnosis but his mom and two cousins have ADPKD and/or end-stage renal disease. During admission he underwent aortic repair and recovered well. His eGFR was 17 ml/min at the time of discharge but was unfortunately lost to follow up. Of note, our patient lacked many known risk factors of aortic dissection including hypertension, collagen disorders, or trauma but did report a history of cigarette smoking. Discussion: ADPKD is often caused by PKD1 and PKD2 genes and affects multiple organ systems. Notably the expression of PKD1 in vascular smooth muscle and PKD2 in endothelium creates risk factors for ICA, TAAD, and aortic root dilation. Our patient lacked risk factors of vascular dissection upon presentation, raising suspicion of association with his ADPKD. Studies have shown an increased risk of aortic dissection in patients with ADPKD, including a cohort study in Taiwan that found a 5-fold risk increase. This case brings to light the risks and benefits of preemptive screening for vascular anomalies beyond ICA in patients with ADPKD.