BACKGROUND: The RNF213 p.R4810K variant is a major susceptibility gene for moyamoya disease and has recently been associated with systemic vascular abnormalities. However, its clinical relevance in solid organ transplantation remains poorly understood. CASE PRESENTATION: A 61-year-old man with end-stage renal disease due to autosomal dominant polycystic kidney disease underwent deceased-donor kidney transplantation after 17 years of hemodialysis. His medical history was notable for multiple coronary interventions, cerebral infarction, and a known cerebral aneurysm. During transplantation, clamping of the external iliac artery resulted in arterial dissection, necessitating vascular reconstruction and re-anastomosis of the renal artery. Postoperatively, the patient developed persistent urinary leakage caused by bladder rupture and vesicoureteral complications, requiring multiple surgical revisions. On postoperative day 62, follow-up brain MRI incidentally revealed a subacute infarction in the left anterior cerebral artery territory. Given his extensive vascular history and a family history of moyamoya disease in his daughter, genetic testing was performed and confirmed a heterozygous RNF213 p.R4810K mutation. CONCLUSION: This case represents a rare report of kidney transplantation complicated by intraoperative iliac artery dissection and postoperative cerebral infarction in a patient with an RNF213 mutation. The findings highlight the systemic vascular fragility associated with RNF213 and underscore the importance of careful preoperative assessment, family history evaluation, and tailored surgical strategies in high-risk transplant candidates.
Nakazawa et al. (Fri,) studied this question.