Lysosomal Storage Disorders

Jacopo Cefalo; Bruno Crestani; Alice Guyard; Magali Pettazzoni; Wladimir Mauhin; Marie-Pierre Debray; Raphael Borie

doi:10.1055/a-2715-6812

Seminars in Respiratory and Critical Care Medicine, Inhaltsverzeichnis

Semin Respir Crit Care Med
DOI: 10.1055/a-2715-6812

Review Article

Lysosomal Storage Disorders

Autor*innen

Jacopo Cefalo

¹Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France

²Université Paris Cité, UMR Inserm, Paris, France
Bruno Crestani

¹Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France

³Département de Pathologie, Hôpital Bichat, Paris, France
Alice Guyard

⁴Biochemistry and Molecular Biology department and Reference Center laboratory for Inherited Metabolic Disorders Hospices Civils de Lyon, Bron, France
Magali Pettazzoni

⁵Internal Medicine Department, Hospital Group Diaconesses-Croix Saint Simon, Paris, France
Wladimir Mauhin

⁶Respiratory Unit, ASST Santi Paolo e Carlo, Università degli Studi di Milano, Milano, Italy
Marie-Pierre Debray

³Département de Pathologie, Hôpital Bichat, Paris, France

⁷Service de Radiologie, FHU INFIRE, Hôpital Bichat, Paris, France
Raphael Borie

¹Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France

³Département de Pathologie, Hôpital Bichat, Paris, France

Abstract

Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal diseases (LDs) are a group of rare inherited diseases caused by deleterious variants affecting genes that encode the lysosomal enzymes, their transporter or their cofactor. Among LDs that are associated with lung involvement and/or interstitial lung disease (ILD) acid sphingomyelinase deficiency [ASMD formerly called Niemann–Pick A, AB, and B diseases]) is the most common. An history of lower respiratory tract infections and exertional dyspnea are the most frequent respiratory manifestations. In ASMD, ILD is frequent and is usually associated with spleen and/or liver enlargement, low platelet count, and low level of high-density lipoprotein cholesterol. A restrictive lung functional pattern and a reduction in DLCO value are usually observed. Analysis of bronchoalveolar lavage fluid and lung biopsy showing foamy cells can orientate the diagnosis, based on the demonstration of an enzymatic deficiency in sphingomyelinase in the blood, associated with biallelic pathogenic variants of the SMPD1 gene. An enzyme replacement therapy (ERT), based on intravenous recombinant enzyme infusions (olipudase alfa), is available from 2021 with very encouraging results both in pediatric and adult patients affected with type B or AB. Olipudase alfa administration decreased liver and spleen volume, increased DLCO value and improved radiological lung involvement. Available enzyme replacement therapy supports an early diagnosis to implement therapy before any irreversible organ damage.

Keywords

ASMD - splenomegaly - thrombocytopenia

Volltext

Referenzen

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