Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series

Introduction

Marfan syndrome is a an autosomal dominant disorder of connective tissue caused by mutations in the Fibrillin-1 glycoprotein [1]. It leads to serious cardiovascular complications such as aortic aneurysms and dissection, cardiac valve disease, cardiomyopathy, and life-threatening arrhythmia [2]. In the context of renal diseases, the prevalence of kidney cysts is higher in patients with Marfan syndrome than in age-matched controls (56% vs 30%) [2]. However, there is no evidence confirming an association between Marfan syndrome and an increased occurrence of functional renal diseases [3]. Marfan syndrome has a prevalence of 1 in 3000 to 5000 individuals [1]. The condition exhibits complete penetrance with variable expression, and 25% of cases arise from de novo mutations, occurring worldwide without racial or sex bias [1].

Kidney transplantation (KTX) is the preferred treatment for end-stage renal disease (ESRD). The disparity between the number of potential recipients and the availability of transplantable organs has led to an increased reliance on organs from expanded criteria donors, including those with rare diseases or anatomical abnormalities such as horseshoe kidneys. Marfan syndrome is one such condition. The presence of Marfan syndrome in a donor is not considered a contraindication to organ retrieval and kidney transplantation, provided that no vascular abnormalities are identified, in accordance with United Network for Organ Sharing, Eurotransplant, and Kidney Disease: Improving Global Outcomes guidelines. In Poland, 1130 KTX were performed in 2024, and as of January 2025, the number of patients on the waiting list for transplantation was 1123 (data according to the Polish National Transplant Coordinating Center, POLTRANSPLANT; poltransplant.org.pl). Due to the connective tissue impairment, few cases of deceased Marfan syndrome patients become donors, but existing reports show that kidneys from such donors should not be discarded and can be safely transplanted [4,5].

This report describes 2 cases of successful kidney transplantation from a 39-year-old male deceased donor with Marfan syndrome, including a 59-year-old man with ESRD due to diabetic nephropathy, and a 34-year-old man with ESRD due to obstructive nephropathy.

Case Reports

CASE 1:

A 39-year-old male donor died from a subarachnoid hemorrhage. Brain death was confirmed on the 7^th day of hospitalization in the intensive care unit. The donor suffered from Marfan syndrome and had a body mass index (BMI) of 22.6. His medical history included an aortic dissection in 2008, treated with a Bentall procedure using a 23 mm St. Jude Medical (SJM) mechanical prosthesis, reimplantation of the coronary ostia, and replacement of part of the ascending aorta. In 2018, he underwent vascular surgery with replacement of the infrarenal aorta using a bifurcated graft. The blood type was B Rh(+).

Vital parameters remained stable, with a maximum noradrenaline infusion of 0.01 μg/kg/min. Diuresis was maintained at 200 mL/h. The kidneys were procured 1 day after brain death confirmation, on the 8^th day of hospitalization. Retrieval was performed via laparotomy. Access to the aortic bifurcation was achieved, and connective tissue was removed from the anterior aortic wall. The aorta was cannulated and then clamped just below the diaphragm. Following clamping, in situ perfusion was initiated using University of Wisconsin (UW) Store Protect Plus. During further renal and vascular preparation, the surgical team identified aortic dissection involving the thoracic aorta, abdominal aorta, and the aortic bifurcation. The renal arteries and veins were free of dissection. The kidneys were removed from the retroperitoneal space, excess adipose tissue was cleared, and the organs were packaged in UW Store Protect Plus. The kidneys were then transported and stored in UW Store Protect Plus under static cold storage (4°C).

CASE 2:

The first kidney was transplanted into a 59-year-old male patient with ESRD secondary to diabetic nephropathy, with residual diuresis of approximately 800 mL, who had been undergoing continuous hemodialysis for 7 years. Additionally, this patient was suffering from arterial hypertension, benign prostate hyperplasia, cholelithiasis, erosive gastritis and hyperlipidemia, and coronary artery disease. Cross match was negative. Human leukocyte antigen (HLA) compliance was 1/6 for HLA A, B, and DR. The panel reactive antibodies (PRA) level was 0%. Before kidney transplantation, the patient was induced with 20 mg of basiliximab. Then, a second 20 mg dose was administered on the fourth postoperative day.

Prior to surgery, on the side table, vascular reconstruction was performed. Both artery and vein had patches available, the arterial patch was dissected and renal vein was elongated and reconstructed using donor inferior vena cava with Prolene 5-0 sutures. No anatomical abnormalities were present in the kidney. Afterwards, the kidney was perfused with Ringer’s lactate to visualize leaks, which were fitted with Prolene 5-0 sutures. A “0-day” needle biopsy was taken and the site was secured with a single “Z” polydioxanone (PDS) 4-0 suture.

Histopathological examination of the “0” biopsy revealed acute tubular necrosis (ATN) and mild stromal fibrosis, resulting in a Remuzzi score of 0. After gaining access to the external iliac artery and vein, the reconstructed right kidney vein was anastomosed to the recipient’s external iliac vein in the standard end-to-side technique using Prolene 5-0 running sutures. Subsequently, the renal artery was anastomosed to the side of the left external iliac artery; anastomosis was also done with Prolene 5-0 running sutures.

After warming, the kidney’s reperfusion and turgor were good, with a perceptible pulse from the iliac and renal arteries. Immediate diuresis after reperfusion was observed. The operation lasted 3 hours, anastomosis time was 38 min. Cold ischemia time (CIT) was 711 minutes.

The patient was closely monitored in the surgical intensive care unit. Laboratory tests were performed daily at 6: 00 a.m. Fluid balance was meticulously recorded. Clinical parameters, including blood pressure, heart rate, fasting glucose level, and arterial oxygen saturation, were regularly assessed. After several days of postoperative monitoring, the patient was transferred to the transplant unit for continued postoperative management and general care. The immunosuppression regimen consisted of: prednisone (administered once daily), tacrolimus and mycophenolate mofetil (administered twice daily in divided doses). The patient didn’t require dialysis after surgery.

On postoperative day (POD) 0, the renal artery showed a normal low-resistance flow spectrum – in the hilum area approximately 58/20 cm/s. The intrarenal flows exhibited a normal low-resistance spectrum. The pulsality index (PI) and resistance index (RI) were within normal limits. On POD 7, the renal artery was patent, with a flow exhibiting an increased systolic-diastolic amplitude Vmax/Vmin at the anastomosis site of 275/23 cm/s (maximum in the iliac artery is 262 cm/s). In the hilum area, Vmax/Vmin was 118/14 cm/s. The intrarenal flows show slightly elevated resistance, with PI of 1.79–1.99 and RI at the upper limit of normal at 0.78–0.88.

Four months post-surgery, Doppler ultrasound revealed patent renal artery and vein. The artery showed a low-resistance flow spectrum (Vmax/Vmin of 66/30 cm/s in the hilum and Vmax of 233 cm/s in the anastomosis, indicating turbulent flow). Intrarenal flows also exhibited a low-resistance spectrum with a slightly prolonged acceleration time, and the PI (0.8–0.95) and RI (0.52–0.60) indices are at the lower limit of normal. The estimated glomerular filtration rates and laboratory findings are presented in Tables 1 and 2.

CASE 3:

The second recipient was a 34-year-old male patient who underwent transplantation due to ESRD caused by ureteral reflux and obstructive nephropathy. He had a left nephrectomy in 2023 for clear cell renal cell carcinoma (pT1aR0) and had a history of bilateral bladder-ureteral reflux (grade IV/V) and neurogenic bladder since childhood. He had hypertension, a resolved atrial fibrillation episode, and secondary hyperparathyroidism. The patient was hemodialyzed. There were approximately 200 mL of residual diuresis and no vascular abnormalities. Cross match was negative. HLA compliance was 2/6 in HLA A, B and DR. PRA was 0%.

Before transplantation, an aortic patch had to be removed due to its wall dissection and the inferior edge of the dissected artery was further enforced using Prolene 5-0. No anatomical abnormalities of the kidney were detected. Lymphatic vessels in the renal hilum were ligated. A “0-day” biopsy was carried out with a needle puncture and secured with a single “Z” PDS 4-0 suture. The histopathological examination revealed ATN and traces of stroma fibrosis, with a Remuzzi score of 0. During surgery, vascular anastomoses were performed: a typical end-to-side donor vein to the external iliac vein and arterial anastomosis within a continuous Prolene 5-0 suture. After reperfusion, kidney turgor was good, with a regular pulse in both the iliac and renal arteries as well as their branches. The procedure lasted 100 minutes, with the vascular anastomosis taking 40 minutes. CIT of the kidney was 906 minutes.

Following the transplantation procedure, the patient was monitored in the surgical intensive care unit. Laboratory tests were performed daily at 6: 00 a.m., and fluid balance was meticulously recorded. Clinical parameters, including blood pressure, heart rate, fasting glucose level, and blood oxygenation, were regularly assessed. After several days, the patient was transferred to the transplant unit to continue postoperative and general care.

The immunosuppression regimen consisted of prednisone (administered once daily), tacrolimus, and mycophenolate mofetil (administered twice daily in divided doses).

Due to delayed graft function in the immediate postoperative period, the patient required several hemodialysis sessions. Following hemodialysis, an increasing diuresis was noted (up to approximately 4500 mL) and creatinine levels dropped to a minimum of 1.5 mg/dL. On POD 0, the renal artery exhibited a low-resistance flow spectrum – in the hilum area, approximately 40/13 cm/s. The intrarenal flows showed a low-resistance spectrum. The PI and RI indices were within normal limits. On POD 8, the renal artery and vein were patent, but with some technical assessment difficulties due to edema. Overall, however, low-resistance flow was observed, without signs of stenosis, and with Vmax/Vmin of 103/19 cm/s. The parenchymal flows were symmetrical, with RI and PI within normal limits.

Four months post-surgery, Doppler ultrasound revealed patent renal artery and vein. The artery showed a low-resistance flow spectrum (Vmax/Vmin of 66/30 cm/s in the hilum and Vmax of 233 cm/s in the anastomosis, indicating turbulent flow). Intrarenal flows also exhibited a low-resistance spectrum with a slightly prolonged acceleration time, and the PI (0.8–0.95) and RI (0.52–0.60) indices were at the lower normal limit. The estimated glomerular filtration rates and laboratory findings are presented in Tables 3 and 4.

Discussion

The 2 patients described received kidneys from a donor with Marfan syndrome. One patient experienced delayed graft function, which subsequently resolved, resulting in good graft function in both cases. To date, only 2 case reports have documented 3 successful kidney transplants from donors with Marfan syndrome [4,5]. In those reports, the kidneys were retrieved from donors who died from subarachnoid hemorrhage or cerebral hemorrhage secondary to aortic dissection [4,5]. Neither publication provided information on how the diagnosis of Marfan syndrome had been established. In our case, the diagnosis was known based on the donor’s medical history and previous surgical procedures.

In one of the previously described cases, the recipient developed acute interstitial rejection (Banff IIa), diagnosed by renal biopsy 3 months after transplantation [4]. The remaining transplanted kidneys did not show any form of rejection 1 year after transplantation. Our patients did not undergo biopsy because no deterioration in renal function was observed after transplantation.

Findings about renal involvement in Marfan syndrome are finite. Some researchers have noted that microhematuria and proteinuria can occur alongside ultrastructural changes in the glomerular basement membrane and specific vascular alterations, which may involve disruption of the internal elastic lamina in certain cases [6,7]. However, there is no evidence of a higher prevalence of functional renal diseases among patients with Marfan syndrome [3]. Renal characteristics have been studied in mice with low fibrillin expression, serving as a model for Marfan syndrome [8]. These mice did not demonstrate functional deficiencies in the glomerulus, and changes in renal histology were minimal, showing only a decrease in glomerular volume and mesangial area, likely due to a reduction in mesangial cell volume. In wild-type mice, fibrillin-1 was positively identified in the tubulointerstitium, perivascular regions, and glomerular mesangium [8]. Taken together, these findings in both humans and mutant mice indicate that Marfan syndrome is unlikely to significantly impair renal function. According to previous studies, kidney cysts occur more frequently in patients with Marfan syndrome than in age-matched controls (56% vs 30%) [2]. These lesions can be easily identified using imaging modalities such as ultrasound or computed tomography. In the present case, no renal cysts were detected in either kidney.

Our case demonstrated that this connective tissue disorder did not impair vascular anastomosis or the vascular parameters measured during Doppler ultrasound examination, indicating that surgical reconstruction and early graft perfusion were not compromised. However, given the known propensity for vascular abnormalities in patients with Marfan syndrome – including arterial fragility, aneurysm formation, and elastic fiber defects – it is crucial to perform a thorough and precise assessment of the retrieved organs prior to transplantation. Such evaluation should aim to detect any subtle or overt vascular pathologies that could affect graft function or surgical outcomes. Comprehensive pre-transplant imaging and intraoperative inspection are essential to ensure the suitability of organs from donors with Marfan syndrome and to optimize recipient prognosis.

Conclusions

The cases of the 2 patients described above, together with previously published reports [4,5], demonstrate that kidneys obtained from individuals with Marfan syndrome can function effectively and provide recipients with a good quality of life. Naturally, care must be taken during organ retrieval to rule out any dissection involving the renal arteries. Given the persistent imbalance between the number of transplant candidates and the availability of donor organs, kidneys procured from donors with Marfan syndrome represent a valuable opportunity to expand the pool of organs available for transplantation.