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Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
L. Murgasova, H. Hulkova, V. Baresova, M. Jurovcik, J. Stritesky, K. Jurickova, M. Magner, J. Sikora
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
Grantová podpora
LX22NPO5107
Ministerstvo Školství, Mládeže a Tělovýchovy
UNCE/MED/007
Univerzita Karlova v Praze
SVV260516
Univerzita Karlova v Praze
Cooperatio
Univerzita Karlova v Praze
RVO-VFN 64165/2012
Ministerstvo Zdravotnictví Ceské Republiky
NLK
ProQuest Central
od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest)
od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2003-01-01 do Před 1 rokem
- MeSH
- antigeny CD63 MeSH
- enzymová substituční terapie MeSH
- lidé MeSH
- lymfoidní tkáň patologie MeSH
- lyzozomy MeSH
- mukopolysacharidózy * diagnóza farmakoterapie genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.
Citace poskytuje Crossref.org
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- $a Murgasova, Lenka $u Department of Otorhinolaryngology, 3rd Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady in Prague, Prague, Czech Republic $u Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 00, Prague 2, Czech Republic
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- $a Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.
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