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      Consensus clinical management guidelines for Niemann-Pick disease type C

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          Abstract

          Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy.

          NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

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          AGREE II: advancing guideline development, reporting and evaluation in health care.

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            Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

            Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase.
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              Identification of HE1 as the second gene of Niemann-Pick C disease.

              Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of cholesterol from lysosomes. Here we show that the disease is caused by a deficiency in HE1, a ubiquitously expressed lysosomal protein identified previously as a cholesterol-binding protein. HE1 was undetectable in fibroblasts from NP-C2 patients but present in fibroblasts from unaffected controls and NP-C1 patients. Mutations in the HE1 gene, which maps to chromosome 14q24.3, were found in NP-C2 patients but not in controls. Treatment of NP-C2 fibroblasts with exogenous recombinant HE1 protein ameliorated lysosomal accumulation of low density lipoprotein-derived cholesterol.
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                Author and article information

                Contributors
                tarekegn.hiwot@uhb.nhs.uk
                alessandro.moro@uniud.it
                dardis.andrea@aoud.sanita.fvg.it
                uma.ramaswami@nhs.net
                Sandra.Sirrs@vch.ca
                pineda@hsjdbcn.org
                vaniermtv@gmail.com
                mark.walterfang@mh.org.au
                shaun.bolton@uhb.nhs.uk
                Charlotte.Dawson@uhb.nhs.uk
                benedicte.heron@aphp.fr
                miriam.stampfer@med.uni-tuebingen.de
                jackie@niemann-pick.org.uk
                Chris.Hendriksz@srft.nhs.uk
                p.gissen@ucl.ac.uk
                ellen.crushell@cuh.ie
                MJCOLL@clinic.cat
                yann.nadjar@aphp.fr
                hans.kluenemann@inp3.de
                mengel@kinder.klinik.uni-mainz.de
                martin.hrebicek@lf1.cuni.cz
                Simon.Jones@cmft.nhs.uk
                dory@wustl.edu
                bruno.bembi@asuiud.sanita.fvg.it
                patterson.marc@mayo.edu
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                6 April 2018
                6 April 2018
                2018
                : 13
                : 50
                Affiliations
                [1 ]ISNI 0000 0004 1936 7486, GRID grid.6572.6, Institute of Metabolism and System Research, , University of Birmingham, ; Birmingham, UK
                [2 ]AMC Hospital of Udine, Udine, Italy
                [3 ]ISNI 0000 0001 0439 3380, GRID grid.437485.9, Royal Free London NHS Foundation Trust, ; London, UK
                [4 ]ISNI 0000 0001 0684 7796, GRID grid.412541.7, Vancouver General Hospital, ; Vancouver, Canada
                [5 ]ISNI 0000 0001 0663 8628, GRID grid.411160.3, Hospital Sant Joan de Deu, ; Barcelona, Spain
                [6 ]ISNI 0000 0001 2172 4233, GRID grid.25697.3f, INSERM U820, Université de Lyon, Faculté de Médecine Lyon-Est, ; Lyon, 69372 France
                [7 ]ISNI 0000 0004 0624 1200, GRID grid.416153.4, Royal Melbourne Hospital, ; Parkville, Australia
                [8 ]ISNI 0000 0004 0376 6589, GRID grid.412563.7, University Hospitals Birmingham NHS Foundation Trust, ; Birmingham, UK
                [9 ]ISNI 0000 0001 2175 4109, GRID grid.50550.35, Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, , Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, ; UPMC University 06, Paris, France
                [10 ]ISNI 0000 0001 0196 8249, GRID grid.411544.1, Universitatsklinikum Tubingen Institut fur Medizinische Genetik undangewandte Genomik, ; Tubingen, Germany
                [11 ]Niemann-Pick UK, Washington, UK
                [12 ]ISNI 0000 0001 0237 2025, GRID grid.412346.6, Salford Royal NHS Foundation Trust, ; Salford, UK
                [13 ]ISNI 0000 0004 0605 8588, GRID grid.415971.f, MRC Laboratory for Molecular Cell Biology, ; London, UK
                [14 ]ISNI 0000 0004 0514 6607, GRID grid.411466.0, Children’s University Hospital, ; Dublin, Republic of Ireland
                [15 ]ISNI 0000 0000 9635 9413, GRID grid.410458.c, Hospital Clinic de Barcelona, ; Barcelona, Spain
                [16 ]ISNI 0000 0001 2150 9058, GRID grid.411439.a, Hopital Universitaire Pitie Salpetriere, ; Paris, France
                [17 ]ISNI 0000 0000 9194 7179, GRID grid.411941.8, Universitatsklinikum Regensburg Klinik und Poliklinik fur Chirurgie, ; Regensburg, Germany
                [18 ]Universitatmedizin Mainz, Mainz, Germany
                [19 ]Charlies University in Prague, Prague, Czech Republic
                [20 ]ISNI 0000 0004 0430 9101, GRID grid.411037.0, Central Manchester University Hospitals NHS Foundation Trust, ; Manchester, UK
                [21 ]ISNI 0000000122986657, GRID grid.34477.33, University of Washington School of Medicine, ; Seattle, USA
                [22 ]Mayo 1290 Clinic Department of Pediatric and Adolescent Medicine, Minnesota, USA
                Author information
                http://orcid.org/0000-0002-3629-2338
                Article
                785
                10.1186/s13023-018-0785-7
                5889539
                29625568
                528b5300-3e38-479e-bce5-72d09392a7d5
                © The Author(s). 2018

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 24 November 2017
                : 13 March 2018
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100007565, Consumers, Health, Agriculture and Food Executive Agency;
                Award ID: 2012 12 01
                Award Recipient :
                Categories
                Review
                Custom metadata
                © The Author(s) 2018

                Infectious disease & Microbiology
                niemann-pick type c,npc,guidelines,diagnosis,management
                Infectious disease & Microbiology
                niemann-pick type c, npc, guidelines, diagnosis, management

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