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磷酸甘露糖变位酶2先天性糖基化障碍患者的人体测量表型

Anthropometric Phenotype of Patients with PMM2-CDG.

作者信息

Lipiński Patryk, Różdżyńska-Świątkowska Agnieszka, Bogdańska Anna, Tylki-Szymańska Anna

机构信息

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Anthropology Laboratory, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

出版信息

Children (Basel). 2021 Sep 26;8(10):852. doi: 10.3390/children8100852.

DOI:10.3390/children8100852
PMID:34682117
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8535126/
Abstract

BACKGROUND

Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthropometric phenotype.

MATERIALS AND METHODS

Retrospective chart review of PMM2-CDG patients' medical records was performed regarding the anthropometric measurements (head circumference, body length/height, body weight, body mass index) and variants.

RESULTS

A negative tendency of growth evolution was observed. Patients found to be heterozygous for R141H grew slower than other patients. Body weight was correlated with body height. A negative tendency of the growth rate of head circumference was observed. Patients found to be heterozygous for R141H experienced slower growth than other patients.

CONCLUSIONS

Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.

摘要

背景

在患有PMM2-CDG的儿童中，生长发育迟缓的情况较为常见。本研究的目的是描述PMM2-CDG患者的纵向人体测量学表型，并尝试找出基因型与人体测量学表型之间的一些相关性。

材料与方法

对PMM2-CDG患者的病历进行回顾性图表审查，内容包括人体测量指标（头围、身长/身高、体重、体重指数）和基因变异。

结果

观察到生长发育呈负向趋势。发现R141H杂合子的患者生长速度比其他患者慢。体重与身高相关。观察到头围生长速度呈负向趋势。发现R141H杂合子的患者生长速度比其他患者慢。

结论

长期观察研究对于表征人体测量学表型至关重要。发现R141H杂合子的患者身体生长发育迟缓以及头围生长发育迟缓更为严重。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/b831c9928004/children-08-00852-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/68a69dfee0fc/children-08-00852-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/6e950a658b05/children-08-00852-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/c0ed0bf061fb/children-08-00852-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/84d5d592c882/children-08-00852-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/b831c9928004/children-08-00852-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/68a69dfee0fc/children-08-00852-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/6e950a658b05/children-08-00852-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/c0ed0bf061fb/children-08-00852-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/84d5d592c882/children-08-00852-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a77f/8535126/b831c9928004/children-08-00852-g005.jpg

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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.先天性糖基化障碍的临床、生化和分子表型：长期随访。
Orphanet J Rare Dis. 2021 Jan 6;16(1):17. doi: 10.1186/s13023-020-01657-5.
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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
国际磷酸甘露糖变位酶 2 型先天性糖基化障碍临床指南：诊断、治疗和随访。
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Mol Genet Metab. 2019 Jan;126(1):1-5. doi: 10.1016/j.ymgme.2018.11.003. Epub 2018 Nov 9.
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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?PMM2-CDG 的长期随访：我们是否已准备好开始治疗试验？
Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8.
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