Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) affects ∼12.5 million people globally and is the fourth leading cause of end-stage kidney disease (ESKD) requiring dialysis or transplantation [1]. It is mainly caused by mutations in PKD1 (80%–85%) and PKD2 (10%), encoding polycystin 1 and 2. Rare mutations in other genes (e.g. PRKCSH, GANAB, ALG8, ALG9, SEC61B, SEC63, DNAJB11, HNF1B) cause atypical forms. The primary clinical feature is multiple renal cysts leading to chronic kidney disease (CKD) [2]. Cysts can also form in other organs, commonly the liver, causing hepatomegaly [3]. Patients with severe hepatomegaly may undergo isolated liver transplantation (LT) or combined liver-kidney transplantation (CLKT) if they have moderate to severe CKD. Method This retrospective observational study examines renal survival in ADPKD patients who underwent CLKT and LT. Secondary outcomes include patient survival in CLKT and LT, and renal function trends post-transplantation, with a composite outcome of CKD stage change (≥IIIa) and eGFR decline >40%. Results Renal function was evaluated in 54 patients: 39 (72%) underwent CLKT and 15 (28%) LT. Patients’ characteristics are reported in Table 1. All patients had TLV >5000 ml, with more significant kidney involvement in CLKT recipients. Molecular analysis of 27 patients showed 23 (88.5%) PKD1 mutations, 1 (3.8%) GANAB mutation, and 2 (7.7%) negative results. Graft survival: no CLKT patient needed dialysis (median follow-up 3.7 years). Among LT patients, only one (6.7%) required hemodialysis after 8 years (median follow-up 4.5 years) (Fig. 1). LT patients showed a more marked kidney function decline (P = 0.01) (Fig. 2), but their annual eGFR decline was comparable to the expected rate considering the Mayo Clinic Imaging Classification. No significant difference in patient survival was observed (P = 0.3) (Fig. 3). One- and five-year survival rates were 86.1% and 82.6% for CLKT, and 93.3% and 87.5% for LT. Conclusion Renal function in ADPKD patients remains stable long-term after CLKT. Liver-transplanted patients did not experience faster eGFR deterioration than expected, and there was a limited need for RRT, observed in only one patient with a pre-transplant eGFR of 76 ml/min, 8.4 years after surgery. Extending genetic evaluation is crucial as certain genes predominantly cause PLD and may reduce the likelihood of progressing to ESKD, guiding treatment choices.
Lerario, S., Aiello, V., Ciurli, F., Dell'Oglio, A., Auletta, A., Montanari, F., et al. (2025). Renal outcomes of kidney-liver transplantation and liver transplantation in autosomal dominant polycystic kidney disease patients. NEPHROLOGY DIALYSIS TRANSPLANTATION, 40(Supplement_3), 371-374 [10.1093/ndt/gfaf116.0185].
Renal outcomes of kidney-liver transplantation and liver transplantation in autosomal dominant polycystic kidney disease patients
Lerario, S;Aiello, V;Ciurli, F;Dell'oglio, A;Auletta, A;Montanari, F;Cristalli, C;Turchetti, D;Ravaioli, M;La Manna, G;Capelli, I
2025
Abstract
Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) affects ∼12.5 million people globally and is the fourth leading cause of end-stage kidney disease (ESKD) requiring dialysis or transplantation [1]. It is mainly caused by mutations in PKD1 (80%–85%) and PKD2 (10%), encoding polycystin 1 and 2. Rare mutations in other genes (e.g. PRKCSH, GANAB, ALG8, ALG9, SEC61B, SEC63, DNAJB11, HNF1B) cause atypical forms. The primary clinical feature is multiple renal cysts leading to chronic kidney disease (CKD) [2]. Cysts can also form in other organs, commonly the liver, causing hepatomegaly [3]. Patients with severe hepatomegaly may undergo isolated liver transplantation (LT) or combined liver-kidney transplantation (CLKT) if they have moderate to severe CKD. Method This retrospective observational study examines renal survival in ADPKD patients who underwent CLKT and LT. Secondary outcomes include patient survival in CLKT and LT, and renal function trends post-transplantation, with a composite outcome of CKD stage change (≥IIIa) and eGFR decline >40%. Results Renal function was evaluated in 54 patients: 39 (72%) underwent CLKT and 15 (28%) LT. Patients’ characteristics are reported in Table 1. All patients had TLV >5000 ml, with more significant kidney involvement in CLKT recipients. Molecular analysis of 27 patients showed 23 (88.5%) PKD1 mutations, 1 (3.8%) GANAB mutation, and 2 (7.7%) negative results. Graft survival: no CLKT patient needed dialysis (median follow-up 3.7 years). Among LT patients, only one (6.7%) required hemodialysis after 8 years (median follow-up 4.5 years) (Fig. 1). LT patients showed a more marked kidney function decline (P = 0.01) (Fig. 2), but their annual eGFR decline was comparable to the expected rate considering the Mayo Clinic Imaging Classification. No significant difference in patient survival was observed (P = 0.3) (Fig. 3). One- and five-year survival rates were 86.1% and 82.6% for CLKT, and 93.3% and 87.5% for LT. Conclusion Renal function in ADPKD patients remains stable long-term after CLKT. Liver-transplanted patients did not experience faster eGFR deterioration than expected, and there was a limited need for RRT, observed in only one patient with a pre-transplant eGFR of 76 ml/min, 8.4 years after surgery. Extending genetic evaluation is crucial as certain genes predominantly cause PLD and may reduce the likelihood of progressing to ESKD, guiding treatment choices.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
