RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

被引：22

作者：

Phadke, Rahul ^{[1
,2
,3
]}

Hedberg-Oldfors, Carola ^{[4
]}

Scalco, Renata S. ^{[2
,5
]}

Lowe, David M. ^{[6
,7
]}

Ashworth, Michael ^{[8
]}

Novelli, Marco ^{[9
]}

Vara, Roshni ^{[10
]}

Merwick, Aine ^{[11
]}

Amer, Halima ^{[12
]}

Sofat, Reecha ^{[12
]}

Sugarman, Max ^{[13
]}

Jovanovic, Ana ^{[13
]}

Roberts, Mark ^{[14
]}

Nakou, Vasiliki ^{[15
]}

King, Andrew ^{[16
]}

Bodi, Istvan ^{[16
]}

Jungbluth, Heinz ^{[15
,17
,18
]}

Oldfors, Anders ^{[4
]}

Murphy, Elaine ^{[19
]}

机构：

[1] Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[2] UCL, MRC Ctr Neuromuscular Dis, Queen Sq, London, England

[3] Natl Hosp Neurol & Neurosurg, Div Neuropathol, Queen Sq, London, England

[4] Univ Gothenburg, Inst Biomed, Dept Pathol & Genet, Gothenburg, Sweden

[5] Minist Educ Brazil, CAPES Fdn, Brasilia, DF, Brazil

[6] Royal Free Hosp, Dept Immunol, London, England

[7] UCL, Inst Immun & Transplantat, Royal Free Campus, London, England

[8] Great Ormond St Hosp Sick Children, Dept Histopathol, London, England

[9] Univ Coll London NHS Fdn Trust, Dept Histopathol, London, England

[10] Evelina London Childrens Hosp, Dept Paediat Inherited Metab Dis, London, England

[11] Beaumont Hosp, Dept Neurol, Dublin, Ireland

[12] Univ Coll London NHS Fdn Trust, Dept Clin Pharmacol, London, England

[13] Salford Royal NHS Fdn Trust, Mark Holland Metab Unit, Salford, Lancs, England

[14] Salford Royal NHS Fdn Trust, Great Manchester Neurosci Unit, Salford, Lancs, England

[15] Guys & St Thomas Hosp NHS Fdn Trust, Evelina London Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

[16] Kings Coll Hosp London, Dept Clin Neuropathol, London, England

[17] Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signaling Sect, London, England

[18] Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Basic & Clin Neurosci, London, England

[19] Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, Queen Sq, London, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2020年 / 43卷 / 05期

关键词：

cardio; myopathy; auto-inflammation; glycogen; polyglucosan; RBCK1; BODY MYOPATHY; HEART; MUSCLE; NEMO;

D O I：

10.1002/jimd.12234

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this article, we report four new patients, from three kindreds, with pathogenic variants inRBCK1and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.

引用

页码：1002 / 1013

页数：12