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Volume 8
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Article

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

by
Line Modin
1,2,
Vicky Ng
3,
Paul Gissen
4,
Julian Raiman
3,
Eva Doreen Pfister
5,
Anibh Das
5,
René Santer
6,
Hanna Faghfoury
3,
Saikat Santra
2 and
Ulrich Baumann
7,*
1
Department of Gastroenterology, Hans Christian Andersen Children’s Hospital, DK-5000 Odense, Denmark
2
Liver Department, Birmingham Children’s Hospital, Steelhouse Ln, Birmingham B4 6NH, UK
3
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
4
NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK
5
Department of Pediatrics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany
6
Department of Pediatrics, "KiNDER-UKE", University Medical Center Eppendorf, Martini Str. 52 (O45), 20246 Hamburg, Germany
7
Division of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany
*
Author to whom correspondence should be addressed.
Children 2021, 8(9), 819; https://doi.org/10.3390/children8090819
Submission received: 1 July 2021 / Revised: 28 August 2021 / Accepted: 1 September 2021 / Published: 17 September 2021
(This article belongs to the Special Issue Multidisciplinary Problems and Research in Pediatric Liver Transplantation)
Review Reports Versions Notes

Abstract

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.
Keywords: children; liver transplantation; Niemann-Pick disease type C children; liver transplantation; Niemann-Pick disease type C

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MDPI and ACS Style

Modin, L.; Ng, V.; Gissen, P.; Raiman, J.; Pfister, E.D.; Das, A.; Santer, R.; Faghfoury, H.; Santra, S.; Baumann, U. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. Children 2021, 8, 819. https://doi.org/10.3390/children8090819

AMA Style

Modin L, Ng V, Gissen P, Raiman J, Pfister ED, Das A, Santer R, Faghfoury H, Santra S, Baumann U. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. Children. 2021; 8(9):819. https://doi.org/10.3390/children8090819

Chicago/Turabian Style

Modin, Line, Vicky Ng, Paul Gissen, Julian Raiman, Eva Doreen Pfister, Anibh Das, René Santer, Hanna Faghfoury, Saikat Santra, and Ulrich Baumann. 2021. "A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C" Children 8, no. 9: 819. https://doi.org/10.3390/children8090819

APA Style

Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S., & Baumann, U. (2021). A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. Children, 8(9), 819. https://doi.org/10.3390/children8090819

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