Diagnosis and Care of Infants and Children with Pompe Disease

Andreas Hahn; Julia B. Hennermann; Martina Huemer; Christoph Kampmann; Thorsten Marquardt; Eugen Mengel; Wolfgang Müller-Felber; NicoleMaria Muschol; Marianne Rohrbach; Florian Stehling

doi:10.1055/a-1110-7335

Klinische Pädiatrie, Inhaltsverzeichnis

Klin Padiatr 2020; 232(02): 55-61
DOI: 10.1055/a-1110-7335

Diagnostic and Treatment Recommendation

Diagnosis and Care of Infants and Children with Pompe Disease

Diagnostik und Therapie des Morbus Pompe im Kindesalter

Andreas Hahn

¹Zentrum für Kinderheilkunde und Jugendmedizin der JLU Gießen, Abt. Neuropädiatrie, Sozialpädiatrie und Epileptologie - Sozialpädiatrisches Zentrum, Gießen, Germany

,

Julia B. Hennermann

²Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany

,

Martina Huemer

³Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria

,

Christoph Kampmann

²Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany

,

Thorsten Marquardt

⁴Department of Pediatrics, Westfälische Wilhelms University Münster, Münster, Germany

,

Eugen Mengel

⁵Clinical Science for LSD, SpinCS, Hochheim, Germany

,

Wolfgang Müller-Felber

⁶Pediatric neurology, Dr. v. Haunersche Kinderklinik, München

,

NicoleMaria Muschol

⁷Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

,

Marianne Rohrbach

⁸Abteilung für Stoffwechselerkrankungen und Forschungszentrum für das Kind, Universitäts-Kinderspital Zurich, Zurich, Switzerland

,

Florian Stehling

⁹Kinderklinik 1, Universitätsklinik Essen, Essen, Germany

› Institutsangaben

Abstract

Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up.

Zusammenfassung

Morbus Pompe ist eine seltene metabolische Myopathie, bei der ein Mangel an lysosomaler Alpha-Glukosidase zur pathologischen intra- und extralysosomalen Speicherung von Glykogen sowie zu gestörter Autophagie führt. Je nach Alter bei Beginn können klassisch infantile sowie kindliche, juvenile und adulte Formen unterschieden werden. Alter bei Manifestation und Schweregrad hängen von der Enzym-Restaktivität ab. Seit 2006 ist eine Enzymersatztherapie (EET) verfügbar. Das verlängerte Überleben von Patienten mit infantiler Verlaufsform führt zum Auftreten neuer Symptome, die bisher bei diesen Kindern nicht beschrieben wurden. Zudem hat sich gezeigt, dass eine Antikörperbildung gegen das rekombinante humane Enzym den Erfolg der EET negativ beeinflussen kann. Dieser Artikel fasst neue Erkenntnisse zusammen, die in den letzten Jahren hinsichtlich neuer klinischer Symptome und therapeutischer Probleme gewonnen wurden, und gibt Empfehlungen für Initialdiagnostik, Behandlung und Verlaufserfassung des Morbus Pompe im Kindesalter.

Key words

Infantile onset Pompe disease - Late onset Pompe disease - alpha-glucosidase deficiency - enzyme replacement therapy - immunomodulation

Schlüsselwörter

Infantile Pompe Erkrankung - Late Onset Pompe Erkrankung - Alpha-Glukosidase-Mangel - Enzymersatztherapie Immunmodulation

Volltext

Referenzen

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