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一名停用甘露糖治疗的磷酸甘露糖异构酶先天性糖基化障碍成年患者的临床结局

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy.

作者信息

Noman Kinza, Hendriksz Christian J, Radcliffe Graham, Roncaroli Federico, Moreea Sulleman, Hussain Afifah, Stepien Karolina M

机构信息

Medical School, University of Manchester, United Kingdom.

University of Pretoria, Steve Biko Academic Unit, Paediatrics and Child Health, Pretoria, South Africa.

出版信息

Mol Genet Metab Rep. 2020 Sep 7;25:100646. doi: 10.1016/j.ymgmr.2020.100646. eCollection 2020 Dec.

DOI:10.1016/j.ymgmr.2020.100646
PMID:32963965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7490551/
Abstract

The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis, digestive symptoms and coagulation abnormalities. The condition is treated with mannose supplementation. Long-term outcomes in adults are not well described. We present a case of an adult female patient who discontinued mannose therapy in her adolescence. In adulthood she developed gastrointestinal problems, chronic anaemia and osteophytes in her knees.

摘要

磷酸甘露糖异构酶先天性糖基化障碍（MPI-CDG）由磷酸甘露糖异构酶缺乏引起。临床特征包括高胰岛素血症性低血糖、蛋白丢失性肠病、肝肿大和肝纤维化、消化症状以及凝血异常。该病采用补充甘露糖进行治疗。关于成人的长期预后情况描述不多。我们报告一例成年女性患者，她在青春期停用了甘露糖治疗。成年后，她出现了胃肠道问题、慢性贫血以及膝关节骨赘。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/477aed52eff5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/4bfafba7672c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/48340e5faa87/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/477aed52eff5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/4bfafba7672c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/48340e5faa87/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2129/7490551/477aed52eff5/gr3.jpg

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本文引用的文献

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J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21.
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Congenital disorders of glycosylation.先天性糖基化障碍
Ann Transl Med. 2018 Dec;6(24):477. doi: 10.21037/atm.2018.10.45.
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MPI-CDG with transient hypoglycosylation and antithrombin deficiency.伴有短暂性糖基化异常和抗凝血酶缺乏的MPI-CDG
先天性糖基化障碍的营养干预措施。
Trends Mol Med. 2022 Jun;28(6):463-481. doi: 10.1016/j.molmed.2022.04.003. Epub 2022 May 10.
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Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.糖基化先天性疾病中的骨骼和骨矿物质密度特征、基因概况：综述
Diagnostics (Basel). 2021 Aug 9;11(8):1438. doi: 10.3390/diagnostics11081438.
Haematologica. 2019 Feb;104(2):e79-e82. doi: 10.3324/haematol.2018.211326. Epub 2018 Dec 13.
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CDG Therapies: From Bench to Bedside.CDG 疗法：从基础研究到临床应用。
Int J Mol Sci. 2018 Apr 27;19(5):1304. doi: 10.3390/ijms19051304.
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6
Mannose metabolism: more than meets the eye.甘露糖代谢：远不止表面所见。
Biochem Biophys Res Commun. 2014 Oct 17;453(2):220-8. doi: 10.1016/j.bbrc.2014.06.021. Epub 2014 Jun 12.
7
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.无症状性磷酸甘露糖异构酶缺乏症（MPI-CDG）最初被误诊为过度饮酒。
Clin Chim Acta. 2014 Apr 20;431:15-8. doi: 10.1016/j.cca.2014.01.018. Epub 2014 Feb 6.
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9
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Biochim Biophys Acta. 2009 Sep;1792(9):841-3. doi: 10.1016/j.bbadis.2008.11.012. Epub 2008 Dec 6.
10
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Acta Paediatr. 2002;91(10):1065-72. doi: 10.1080/080352502760311566.