Unknown

Dataset Information

0

Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition.


ABSTRACT:

Background

The commonly used methods for amyloid typing include immunofluorescence or immunohistochemistry (IHC), which sometimes may come with diagnostic pitfalls. Mass spectrometry (MS)-based proteomics has been recognized as a reliable technique in amyloid typing.

Case presentation

We reported two middle-aged patients who presented with proteinuria, hypertension and normal renal function, and both had a family history of renal diseases. The renal biopsies of both patients revealed renal amyloidosis with the similar pattern by massive exclusively glomerular amyloid deposition. The IHC was performed by using a panel of antibodies against the common types of systemic amyloidosis, and demonstrated co-deposition of fibrinogen A? chain and apolipoprotein A-I in the glomerular amyloid deposits of each patient. Then the MS on amyloid deposits captured by laser microdissection (LMD/MS) and genetic study of gene mutations were investigated. The large spectra corresponding to ApoA-I in case 1, and fibrinogen A? chain in case 2 were identified by LMD/MS respectively. Further analysis of genomic DNA mutations demonstrated a heterozygous mutation of p. Trp74Arg in ApoA-I in case 1, and a heterozygous mutation of p. Arg547GlyfsTer21 in fibrinogen A? chain in case 2.

Conclusions

The current study revealed that IHC was not reliable for accurate amyloid typing, and that MS-based proteomics and genetic analysis were essential for typing of hereditary amyloidosis.

SUBMITTER: Li D 

PROVIDER: S-EPMC6929319 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications

Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition.

Li Danyang D   Liu Dan D   Xu Hui H   Yu Xiao-Juan XJ   Zhou Fu-de FD   Zhao Ming-Hui MH   Wang Su-Xia SX  

BMC nephrology 20191223 1


<h4>Background</h4>The commonly used methods for amyloid typing include immunofluorescence or immunohistochemistry (IHC), which sometimes may come with diagnostic pitfalls. Mass spectrometry (MS)-based proteomics has been recognized as a reliable technique in amyloid typing.<h4>Case presentation</h4>We reported two middle-aged patients who presented with proteinuria, hypertension and normal renal function, and both had a family history of renal diseases. The renal biopsies of both patients revea  ...[more]

Similar Datasets

| S-EPMC10053636 | biostudies-literature
| S-EPMC9533797 | biostudies-literature
| S-EPMC4658178 | biostudies-literature
| S-EPMC6984152 | biostudies-literature
| S-EPMC10665346 | biostudies-literature
| S-EPMC10723241 | biostudies-literature
| S-EPMC8983912 | biostudies-literature
| S-EPMC8651690 | biostudies-literature
| S-EPMC9780126 | biostudies-literature
| S-EPMC10920152 | biostudies-literature