A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
Niemann-Pick disease type C
children
liver transplantation
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
17 Sep 2021
17 Sep 2021
Historique:
received:
01
07
2021
revised:
28
08
2021
accepted:
01
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
29
9
2021
Statut:
epublish
Résumé
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). 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
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.
Identifiants
pubmed: 34572251
pii: children8090819
doi: 10.3390/children8090819
pmc: PMC8470073
pii:
doi:
Types de publication
Journal Article
Langues
eng
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