Metabolic Liver Disease in the Infant and Older Child

Chakrapani, Anupam; Gissen, Paul

doi:10.1002/9781119046936.ch19

Cited by 2 publications

(1 citation statement)

References 21 publications

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“…Certain subtypes such as GSD type IV and IXb/c may be associated with more severe liver dysfunction that can progress to cirrhosis and portal hypertension. (26) Liver transplantation is indicated for progressive liver failure, symptomatic multiple hepatic adenomas, hepatocellular carcinoma or failure to achieve metabolic control. Successful long-term outcome with improvement in metabolic control in GSD type 1 has been documented following liver transplantation in Singapore.…”

Section: Glycogen Storage Diseasementioning

confidence: 99%

Clinical spectrum of paediatric liver diseases in Singapore

Chiou¹,

Aw²

2021

smedj

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A wide spectrum of disorders can affect the liver. This spectrum of acute and chronic liver diseases in children differs among populations from various parts of the world because of inherent differences in genetic and environmental factors. This review article provides a concise overview of important paediatric liver disorders prevalent in Singapore and discusses the epidemiology and outcomes of these conditions specific to our local context.

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Section: Glycogen Storage Diseasementioning

confidence: 99%

Clinical spectrum of paediatric liver diseases in Singapore

Chiou¹,

Aw²

2021

smedj

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

Modin

Gissen

et al. 2021

Children

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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.

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Metabolic Liver Disease in the Infant and Older Child

Cited by 2 publications

References 21 publications

Clinical spectrum of paediatric liver diseases in Singapore

Clinical spectrum of paediatric liver diseases in Singapore

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

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