Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.

ABSTRACT:

Introduction

Apolipoprotein CII amyloidosis (AApoCII) is a rare form of amyloidosis. Here, we report a novel mutation associated with AApoCII amyloidosis in 5 patients and describe their clinical, renal biopsy, and mass spectrometry findings.

Methods

Five patients with renal AApoCII p.Lys41Thr amyloidosis were identified from our amyloid mass spectrometry cohort. Clinical features, kidney biopsy, and mass spectrometry findings were analyzed in this rare type of amyloidosis.

Results

The patients were older adults (mean age of 71.6 years at diagnosis), presented with nephrotic-range proteinuria, and often had declining renal function. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-pos

SUBMITTER: Sethi S 

PROVIDER: S-EPMC6127408 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature