Successful Kidney Transplantation for End-Stage Renal Disease in Marfan's Syndrome

Marfan’s syndrome is a systemic disorder of the connective tissue caused by mutations in the extracellular matrix protein fibrillin-1, with aortic dissection and aneurysm being its most life-threatening manifestations. Kidney transplantation for end-stage renal disease (ESRD) in patients with Marfan’s syndrome has not been reported in the literature, and the rate of the incidence of dissection or aneurysm in the iliac artery is unknown. Here, we present a patient with Marfan’s syndrome with ESRD due to severe renal ischemia caused by massive bleeding from thoracoabdominal aortic dissection leading to transplant surgery of a living kidney procured from the patient’s mother. After kidney transplantation, the renal function normalized without vascular complications, and stable graft function along with negative results for both microhematuria and proteinuria continued for two years. Also, vascular complication such as aneurysm or dissection of the iliac artery was not observed using ultrasonography during the follow-up period. ESRD patients with Marfan’s syndrome might be suitable for kidney transplantation, but long-term and careful observations are needed. 1. Introduction Marfan’s syndrome is an autosomal dominant condition with a reported incidence of one in 3,000 to 5,000 individuals [1]. It is caused by mutations in the gene encoding fibrillin-1 (FBN1). FBN1 mutations cause connective tissue disorder in terms of classic ocular, cardiovascular, and musculoskeletal abnormalities. Manifestations include involvement of the lung, skin, and central nervous system. One of the most important clinical problems is the occurrence of thoracoabdominal aortic aneurysm and/or dissection. Most commonly, the dilation of the ascending aorta at the level of the aortic sinus is a cardiovascular manifestation of the disease. Progressive aortic　sinus　enlargement leading to aortic aneurysm is present in 50%–60% of adults and in 50% of children with Marfan’s syndrome. Recent data suggest that Marfan’s syndrome is present in 50% of patients presenting with aortic dissection under the age of 40 and accounts for only 2% of dissections in older patients [2, 3]. Because of this, the lifespan of patients with Marfan’s syndrome is often shortened. A report in the early 1970s describes that life expectancy for affected individuals was about two-thirds that of individuals without Marfan’s syndrome [4]. However, a recent assessment of outcome in Marfan’s syndrome describes a nearly normal life expectancy by virtue of aortic replacement and cardiac transplantation. In general, Marfan’s