Guillaume Dorval1,2, Olivia Boyer3,4, Anne Couderc5, Jean-Daniel Delbet6, Laurence Heidet3,4, Dominique Debray7, Pauline Krug3,4, Muriel Girard7, Brigitte Llanas8, Marina Charbit3,4, Saoussen Krid3,4, Nathalie Biebuyck3,4, Marc Fila9, Cécile Courivaud10, Frances Tilley11, Nicolas Garcelon12, Thomas Blanc13, Christophe Chardot13, Rémi Salomon3,4, Florence Lacaille7. 1. Department of Pediatric Nephrology, MARHEA Reference Center, Hôpital Universitaire Necker-Enfants Malades, AP-HP, 149 Rue de Sèvres, 75015, Paris, France. guillaume.dorval@inserm.fr. 2. Imagine Institute, Université de Paris, Paris, France. guillaume.dorval@inserm.fr. 3. Department of Pediatric Nephrology, MARHEA Reference Center, Hôpital Universitaire Necker-Enfants Malades, AP-HP, 149 Rue de Sèvres, 75015, Paris, France. 4. Imagine Institute, Université de Paris, Paris, France. 5. Department of Pediatric Nephrology, Robert Debré Hospital, AP-HP, Paris, France. 6. Department of Pediatric Nephrology, Armand Trousseau Hospital, AP-HP, Paris, France. 7. Department of Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Cholestatic Genetic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France. 8. Department of Pediatric Nephrology, Hôpital Universitaire Pellegrin, Bordeaux, France. 9. Department of Pediatric Nephrology, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France. 10. Department of Nephrology and Transplantation, Centre Hospitalier Universitaire de Besançon, Besançon, France. 11. Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM U1163, Paris Descartes University, Paris, France. 12. UMR 1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France. 13. Department of Pediatric Surgery, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
Abstract
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease. Lack of data about long-term follow-up makes it difficult to discuss timing and type of organ transplantation. Our objectives were to evaluate long-term evolution and indications for transplantation, from birth to adulthood. METHODS: Neonatal survivors and patients diagnosed in postnatal period with ARPKD between 1985 January and 2017 December from 3 French pediatric centers were retrospectively enrolled in the study. RESULTS: Fifty patients with mean follow-up 12.5 ± 1 years were enrolled. ARPKD was diagnosed before birth in 24%, and at mean age 1.8 years in others. Thirty-three patients were < 1 year of age at first symptoms, which were mostly kidney-related. These most often presented high blood pressure during follow-up. Portal hypertension was diagnosed in 29 patients (58%), 4 of them with bleeding from esophageal varices. Eight patients presented cholangitis (> 3 episodes in three children). Liver function was normal in all patients. Nine children received a kidney transplant without liver complications. A 20-year-old patient received a combined liver-kidney transplant (CLKT) for recurrent cholangitis, and a 15-year-old boy an isolated liver transplant for uncontrollable variceal bleeding despite portosystemic shunt. CONCLUSIONS: Long-term outcome in patients with ARPKD is heterogeneous, and in this cohort did not depend on age at diagnosis except for blood pressure. Few patients required liver transplantation. Indications for liver or combined liver-kidney transplantation were limited to recurrent cholangitis or uncontrollable portal hypertension. Liver complications after kidney transplantation were not significant.
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease. Lack of data about long-term follow-up makes it difficult to discuss timing and type of organ transplantation. Our objectives were to evaluate long-term evolution and indications for transplantation, from birth to adulthood. METHODS: Neonatal survivors and patients diagnosed in postnatal period with ARPKD between 1985 January and 2017 December from 3 French pediatric centers were retrospectively enrolled in the study. RESULTS: Fifty patients with mean follow-up 12.5 ± 1 years were enrolled. ARPKD was diagnosed before birth in 24%, and at mean age 1.8 years in others. Thirty-three patients were < 1 year of age at first symptoms, which were mostly kidney-related. These most often presented high blood pressure during follow-up. Portal hypertension was diagnosed in 29 patients (58%), 4 of them with bleeding from esophageal varices. Eight patients presented cholangitis (> 3 episodes in three children). Liver function was normal in all patients. Nine children received a kidney transplant without liver complications. A 20-year-old patient received a combined liver-kidney transplant (CLKT) for recurrent cholangitis, and a 15-year-old boy an isolated liver transplant for uncontrollable variceal bleeding despite portosystemic shunt. CONCLUSIONS: Long-term outcome in patients with ARPKD is heterogeneous, and in this cohort did not depend on age at diagnosis except for blood pressure. Few patients required liver transplantation. Indications for liver or combined liver-kidney transplantation were limited to recurrent cholangitis or uncontrollable portal hypertension. Liver complications after kidney transplantation were not significant.