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

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.

KEYWORDS:

• Apolipoprotein CII
• immunogold electron microscopy
• renal amyloidosis

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data presented in this study can be found in the article.

Ethics statement

The study involving human participants was reviewed and approved by the Institutional Review Board of University of Miami.

Author contributions

Y.Z.: original idea, manuscript preparation, data analysis, and interpretation.

F.H.: manuscript preparation and correction.

D. L.: data interpretation, figure preparation, manuscript correction.

E.C.: data interpretation and manuscript correction.

OA: manuscript correction.

G.C.: manuscript correction.

G.A.H.: original idea, manuscript preparation, data analysis, and interpretation.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.