Evidence map›Paper›PMID 34572251›Full record

ArticleChildren (Basel, Switzerland)2021

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

Line Modin, Vicky Ng, Paul Gissen, Julian Raiman, Eva Doreen Pfister, Anibh Das, René Santer, Hanna Faghfoury, Saikat Santra, Ulrich Baumann

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Children (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 6 institutions in 4 countries.

Line ModinDepartment of Gastroenterology, Hans Christian Andersen Children's Hospital, DK-5000 Odense, Denmark.
Vicky NgDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Paul GissenNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.ORCID 0000-0002-9712-6122
Julian RaimanDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Eva Doreen PfisterDepartment of Pediatrics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Anibh DasDepartment of Pediatrics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.ORCID 0000-0001-5884-0852
René SanterDepartment of Pediatrics, "KiNDER-UKE", University Medical Center Eppendorf, Martini Str. 52 (O45), 20246 Hamburg, Germany.
Hanna FaghfouryDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Saikat SantraLiver Department, Birmingham Children's Hospital, Steelhouse Ln, Birmingham B4 6NH, UK.
Ulrich BaumannDivision of Pediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany.
Hospital for Sick Children · CAMedizinische Hochschule Hannover · DEBirmingham Children's Hospital · GBGreat Ormond Street Hospital · GBOdense University Hospital · DKUniversität Hamburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTo report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC).

methodsRetrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003-2018). Diagnosis was made by filipin skin test or genetic testing.

resultsNine 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.

conclusionEarly 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.

Indexed as

childrenliver transplantationNiemann-Pick disease type C

Identifiers

PMID34572251
PMCPMC8470073
OpenAlexW3201028027

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.