A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003–2018)....
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MDPI AG
2021-09-01
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| Online Access: | https://www.mdpi.com/2227-9067/8/9/819 |
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| author | Line Modin Vicky Ng Paul Gissen Julian Raiman Eva Doreen Pfister Anibh Das René Santer Hanna Faghfoury Saikat Santra Ulrich Baumann |
| author_facet | Line Modin Vicky Ng Paul Gissen Julian Raiman Eva Doreen Pfister Anibh Das René Santer Hanna Faghfoury Saikat Santra Ulrich Baumann |
| author_sort | Line Modin |
| collection | DOAJ |
| description | Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003–2018). Diagnosis was made by filipin skin test or genetic testing. Results: Nine children were identified (six centres). Neonatal acute liver failure was the most common indication for LTx (seven children). Median age at first presentation: 7 days (range: 0–37). The most prevalent presenting symptoms: jaundice (8/9), hepatosplenomegaly (8/9) and ascites (6/9). 8/9 children had a LTx before the diagnosis of NPC. Genetic testing revealed mutations in NPC1 correlating with a severe biochemical phenotype in 5 patients. All 9 children survived beyond early infancy. Seven children are still alive (median follow-up time of 9 (range: 6–13) years). Neurological symptoms developed in 4/7 (57%) patients at median 9 (range: 5–13) years following LTx. Conclusion: Early diagnosis of NPC continues to be a challenge and a definitive diagnosis is often made only after LTx. Neurological disease is not prevented in the majority of patients. Genotype does not appear to predict neurological outcome after LTx. LTx still remains controversial in NPC. |
| first_indexed | 2024-03-10T07:47:30Z |
| format | Article |
| id | doaj.art-7e7aaf0bde48453fb3c75ab1c2ed1bd6 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T07:47:30Z |
| publishDate | 2021-09-01 |
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| record_format | Article |
| series | Children |
| spelling | doaj.art-7e7aaf0bde48453fb3c75ab1c2ed1bd62023-11-22T12:30:35ZengMDPI AGChildren2227-90672021-09-018981910.3390/children8090819A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type CLine Modin0Vicky Ng1Paul Gissen2Julian Raiman3Eva Doreen Pfister4Anibh Das5René Santer6Hanna Faghfoury7Saikat Santra8Ulrich Baumann9Department of Gastroenterology, Hans Christian Andersen Children’s Hospital, DK-5000 Odense, DenmarkDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, CanadaNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UKDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, CanadaDepartment of Pediatrics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, GermanyDepartment of Pediatrics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, GermanyDepartment of Pediatrics, "KiNDER-UKE", University Medical Center Eppendorf, Martini Str. 52 (O45), 20246 Hamburg, GermanyDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, CanadaLiver Department, Birmingham Children’s Hospital, Steelhouse Ln, Birmingham B4 6NH, UKDivision of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, GermanyBackground: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003–2018). Diagnosis was made by filipin skin test or genetic testing. Results: Nine children were identified (six centres). Neonatal acute liver failure was the most common indication for LTx (seven children). Median age at first presentation: 7 days (range: 0–37). The most prevalent presenting symptoms: jaundice (8/9), hepatosplenomegaly (8/9) and ascites (6/9). 8/9 children had a LTx before the diagnosis of NPC. Genetic testing revealed mutations in NPC1 correlating with a severe biochemical phenotype in 5 patients. All 9 children survived beyond early infancy. Seven children are still alive (median follow-up time of 9 (range: 6–13) years). Neurological symptoms developed in 4/7 (57%) patients at median 9 (range: 5–13) years following LTx. Conclusion: Early diagnosis of NPC continues to be a challenge and a definitive diagnosis is often made only after LTx. Neurological disease is not prevented in the majority of patients. Genotype does not appear to predict neurological outcome after LTx. LTx still remains controversial in NPC.https://www.mdpi.com/2227-9067/8/9/819childrenliver transplantationNiemann-Pick disease type C |
| spellingShingle | Line Modin Vicky Ng Paul Gissen Julian Raiman Eva Doreen Pfister Anibh Das René Santer Hanna Faghfoury Saikat Santra Ulrich Baumann A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C Children children liver transplantation Niemann-Pick disease type C |
| title | A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C |
| title_full | A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C |
| title_fullStr | A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C |
| title_full_unstemmed | A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C |
| title_short | A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C |
| title_sort | case series on genotype and outcome of liver transplantation in children with niemann pick disease type c |
| topic | children liver transplantation Niemann-Pick disease type C |
| url | https://www.mdpi.com/2227-9067/8/9/819 |
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