Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

被引：41

作者：

Cechova, Anna ^{[1
,2
]}

Altassan, Ruqaiah ^{[3
]}

Borgel, Delphine ^{[4
]}

Bruneel, Arnaud ^{[5
,6
]}

Correia, Joana ^{[7
]}

Girard, Muriel ^{[8
]}

Harroche, Annie ^{[9
]}

Kiec-Wilk, Beata ^{[10
,11
]}

Mohnike, Klaus ^{[12
]}

Pascreau, Tiffany ^{[4
]}

Pawlinski, Lukasz ^{[10
,11
]}

Radenkovic, Silvia ^{[13
,14
,15
]}

Vuillaumier-Barrot, Sandrine ^{[5
,16
,17
]}

Aldamiz-Echevarria, Luis ^{[18
]}

Couce, Maria Luz ^{[19
]}

Martins, Esmeralda G. ^{[7
]}

Quelhas, Dulce ^{[20
]}

Morava, Eva ^{[21
]}

de Lonlay, Pascale ^{[22
]}

Witters, Peter ^{[23
,24
]}

Honzik, Tomas ^{[1
,2
,25
]}

机构：

[1] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

[2] Gen Univ Hosp Prague, Ke Karlovu 2, Prague 12808 2, Czech Republic

[3] Alfaisal Univ, King Faisal Specialist Hosp & Res Ctr, Med Genet Dept, Riyadh, Saudi Arabia

[4] Univ Paris Saclay, Hop Necker, AP HP, Serv Hematol Biol, Paris, France

[5] Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France

[6] Univ Paris Saclay, INSERM, Mecanismes Cellulaires & Mol Adaptat Stress & Can, UMR1193, Chatenay Malabry, France

[7] Ctr Hosp Univ Porto CHUP, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal

[8] Univ Paris 05, Necker Hosp, AP HP, Reference Ctr Liver Dis, Paris, France

[9] Hop Necker Enfants Malad, AP HP, Hemophilia Care Ctr, Hematol Unit, Paris, France

[10] Dept Metab Dis JUMC, Krakow, Poland

[11] NSSU Univ Hosp, Krakow, Poland

[12] Otto Von Guericke Univ, Dept Paediat, Magdeburg, Germany

[13] CCB VIB, Metabol Expertise Ctr, Leuven, Belgium

[14] Mayo Clin, Dept Clin Genom, Rochester, MN USA

[15] Mayo Clin, Lab Med Pathol, Rochester, MN USA

[16] Ctr Rech Inflammat CRI, INSERM, U1149, Paris, France

[17] Univ Paris 07, Paris, France

[18] Linked Clin Grp Rare Dis CIBER CIBERER, Biocruces Bizkaia Hlth Res Inst, Grp Metab, Baracaldo, Spain

[19] Univ Santiago de Compostela, Univ Clin Hosp Santiago, Congenital Metab Unit, Dept Pediat,IDIS,CIBERER,MetabERN, Santiago De Compostela, Spain

[20] Ctr Hosp Univ Porto CHUP, Ctr Genet Med Jacinto Magalhaes, Ctr Referencia Doencas Hereditarias Metab, Unit Multidisciplinary Res Biomed,ICBAS,UP, Porto, Portugal

[21] Mayo Clin, Dept Clin Genom, Rochester, MN USA

[22] Univ Paris 05, Necker Hosp, Reference Ctr Inherited Metab Dis, APHP,Filiere G2M,MetabERN, 149 Rue Sevres, F-75743 Paris, France

[23] Univ Hosp Leuven, Dept Pediat, B-3000 Leuven, Belgium

[24] Univ Hosp Leuven, Metab Ctr, Leuven, Belgium

[25] Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2020年 / 43卷 / 04期

基金：

欧盟地平线“2020”; 美国国家卫生研究院;

关键词：

AT deficiency; guidelines; hepatic fibrosis; hyperinsulinaemic hypoglycaemia; mannose phosphate isomerase; MPI-CDG; protein-losing enteropathy; DEFICIENT GLYCOPROTEIN SYNDROME; PROTEIN-LOSING ENTEROPATHY; CAPILLARY-ZONE-ELECTROPHORESIS; SYNDROME TYPE 1B; IN-VITRO MODEL; PHOSPHOMANNOSE ISOMERASE; HEPATIC-FIBROSIS; HYPERINSULINEMIC HYPOGLYCEMIA; COAGULATION ABNORMALITIES; ANTITHROMBOTIC THERAPY;

D O I：

10.1002/jimd.12241

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of proteinN-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants inMPIgene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts' opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.

引用

页码：671 / 693

页数：23

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