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Unveiling renal pathology's potential: exploring a rare subtype of amyloid – apolipoprotein CII amyloidosis in the youngest patient: a case report and literature review.

Authors :
Zuo, Yiqin
Hanly, Fiona
Li, Duo
Chavez, Efren
Aljuboori, Omar
Contreras, Gabriel
Herrera, Guillermo A.
Source :
Ultrastructural Pathology. 2024, Vol. 48 Issue 4, p297-303. 7p.
Publication Year :
2024

Abstract

In this clinical case report, we present a rare subtype of amyloidosis, apolipoprotein CII (apo CII), which was diagnosed through a renal biopsy and subsequently confirmed by identifying the p.K41T mutation via germline DNA sequencing. Upon reviewing the literature, five patients exhibiting identical mutation were identified via renal biopsy, while an additional patient was diagnosed through biopsies of the fat pad and bone marrow. Notably, our patient is the youngest recorded case. We pioneered the application of immunofluorescence and immunogold electron microscopy techniques for apo CII evaluation. Our report provides a detailed description of this case, supplemented by an extensive review encompassing apo CII, documented instances of apo CII amyloidosis with renal or systemic involvement, and potential underlying mechanisms. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01913123
Volume :
48
Issue :
4
Database :
Academic Search Index
Journal :
Ultrastructural Pathology
Publication Type :
Academic Journal
Accession number :
178176862
Full Text :
https://doi.org/10.1080/01913123.2024.2353397