Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience
Corresponding Author
Naoya Yamada
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Correspondence
Naoya Yamada, Department of Transplant Surgery, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0498 Japan.
Email: [email protected]
Search for more papers by this authorAyano Inui
Department of Pediatric Hepatology and Gastroenterology, Eastern Yokohama Hospital, Kanagawa, Japan
Search for more papers by this authorYukihiro Sanada
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorYoshiyuki Ihara
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorTaizen Urahashi
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorAkinari Fukuda
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorSeisuke Sakamoto
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorMureo Kasahara
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorAtsushi Yoshizawa
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorShinya Okamoto
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorHideaki Okajima
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorTomoo Fujisawa
Department of Pediatric Hepatology and Gastroenterology, Eastern Yokohama Hospital, Kanagawa, Japan
Search for more papers by this authorKoichi Mizuta
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorCorresponding Author
Naoya Yamada
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Correspondence
Naoya Yamada, Department of Transplant Surgery, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0498 Japan.
Email: [email protected]
Search for more papers by this authorAyano Inui
Department of Pediatric Hepatology and Gastroenterology, Eastern Yokohama Hospital, Kanagawa, Japan
Search for more papers by this authorYukihiro Sanada
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorYoshiyuki Ihara
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorTaizen Urahashi
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorAkinari Fukuda
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorSeisuke Sakamoto
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorMureo Kasahara
Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorAtsushi Yoshizawa
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorShinya Okamoto
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorHideaki Okajima
Department of Hepato-Biliary-Pancreatic Surgery and Transplantation, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorTomoo Fujisawa
Department of Pediatric Hepatology and Gastroenterology, Eastern Yokohama Hospital, Kanagawa, Japan
Search for more papers by this authorKoichi Mizuta
Department of Transplant Surgery, Jichi Medical University, Tochigi, Japan
Search for more papers by this authorAbstract
Niemann-Pick disease type C (NPC) is a rare autosomal recessive inherited disease characterized by lysosomal accumulation of free cholesterol in macrophages within multiple organs. Infantile-onset NPC often presents with jaundice and hepatosplenomegaly from birth, but these symptoms usually improve during early childhood, and it rarely progresses to liver failure. We report three cases from different hospitals in Japan; the patients developed neonatal-onset NPC, and liver transplantation (LT) was performed as a life-saving procedure. LT was performed at 19 days, 59 days, and 4 months of age, respectively. The last patient was diagnosed with NPC before LT, while the first two patients were diagnosed with neonatal hemochromatosis at LT. In these two patients, the diagnosis of NPC was made more than a year after LT. Even though oral administration of miglustat was started soon after the diagnosis of NPC, all patients showed neurological regression and required artificial respiratory support. All patients survived more than one year after LT; however, one patient died due to tracheal hemorrhage at 4.5 years of age, and another one patient was suspected as recurrence of NPC in liver graft. In conclusion, while LT may be a temporary life-saving measure in patients with neonatal-onset NPC leading to liver failure, the outcome is poor especially due to neurological symptoms. A preoperative diagnosis is thus critical.
CONFLICT OF INTEREST
The authors declare that they do not have anything to disclose regarding funding or conflict of interest with respect to this manuscript.
Supporting Information
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| petr13462-sup-0005-TableS1.docxWord document, 12.6 KB |
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