Diagnosis and therapy of late onset Pompe disease

被引：11

作者：

Schueller, A. ^{[1
]}

Kornblum, C. ^{[2
]}

Deschauer, M. ^{[3
]}

Vorgerd, M. ^{[4
]}

Schrank, B. ^{[5
]}

Mengel, E. ^{[6
]}

Lukacs, Z. ^{[7
,8
]}

Glaeser, D. ^{[9
]}

Young, P. ^{[10
]}

Ploeckinger, U. ^{[11
]}

Schoser, B. ^{[1
]}

机构：

[1] Klinikum Univ Munchen, Neurol Klin, Friedrich Baur Inst, D-80336 Munich, Germany

[2] Univ Bonn, Neurol Klin, Bonn, Germany

[3] Univ Halle Wittenberg, Neurol Klin, Witten, Germany

[4] Ruhr Univ Bochum, Neurol Klin, Bochum, Germany

[5] Deutsch Klin Diagnost, Wiesbaden, Germany

[6] Univ Mainz Klinikum, Villa Metab, Mainz, Germany

[7] Univ Klinikum Hamburg Eppendorf, Klin Kinder & Jugendmed, Interdisziplinares Stoffwechsel Ctr, Eppendorf, Germany

[8] Univ Klinikum Hamburg Eppendorf, Inst Klin Chem, Hamburg, Germany

[9] Genetikum, Neu Ulm, Germany

[10] Univ Klinikum Munster, Klin Schlafmed & Neuromuskulare Erkrankungen, Dept Neurol, Munster, Germany

[11] Charite, Kompetenzzentrum Seltene Stoffwechselkrankheiten, D-13353 Berlin, Germany

来源：

NERVENARZT | 2013年 / 84卷 / 12期

关键词：

Pompe disease; Glycogen storage disease type 2; Diagnostics; Therapy; Consensus; NATURAL COURSE; CONSENSUS; IMPACT; PHENOTYPE;

D O I：

10.1007/s00115-013-3947-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and evidence-based indications for therapy are mandatory. We screened the literature for consensus reports and published trial data of late-onset Pompe disease. These data were summarized in a Delphi consensus method approach. The clinical suspicion of late-onset Pompe disease should be substantiated by the validated dry blood spot test measurement for acid alpha-glucosidase activity. Alternatively, enzyme activity analysis in lymphocytes is also feasible. Glucosidase alpha gene sequencing for verifying the diagnosis is recommended. A muscle biopsy including measurements of acid alpha-glucosidase activity and glycogen concentration is warranted for differential diagnosis in selected cases. The confirmed diagnosis should lead to a multidisciplinary treatment approach, possibly including enzyme replacement therapy.

引用

页码：1467 / 1472

页数：6

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