Related Experiment Video

Updated: Sep 14, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Sporadic Apolipoprotein A-II Amyloidosis With Familial Renal Failure: A Mutation-Negative Case and Comprehensive

Liping Lin1, Hongyu Qiu2, Yanhua You1

  • 1Department of Nephrology, West China Xiamen Hospital of Sichuan University, Xiamen, China.

Nephrology (Carlton, Vic.)
|July 20, 2025
PubMed

Insights

A rare case of apolipoprotein A-II (ApoAII) amyloidosis was diagnosed in a man with kidney failure. This diagnosis was confirmed via mass spectrometry, excluding other common amyloid types.

Area of Science:

  • Nephrology
  • Genetics
  • Biochemistry

Background:

  • Amyloidosis is a group of diseases characterized by protein misfolding and deposition in organs.
  • Renal involvement is common in amyloidosis, leading to progressive kidney failure.
  • Apolipoprotein A-II (ApoAII) amyloidosis is an exceptionally rare form, often presenting with nephropathy.

Purpose of the Study:

  • To report a unique case of apolipoprotein A-II amyloidosis.
  • To highlight the diagnostic challenges and methods for rare amyloidosis subtypes.
  • To discuss the current understanding of ApoAII amyloidosis etiology and management.

Main Methods:

  • Renal biopsy and abdominal fat aspirate for amyloid detection.
  • Exclusion of common amyloidosis types (AL and AA) through comprehensive evaluation.
  • Mass spectrometry analysis of renal amyloid deposits to identify the specific protein.
  • Genetic sequencing of the apolipoprotein A-II gene.

Main Results:

  • Renal biopsy confirmed amyloid deposition in glomeruli, interstitium, and arterioles.
  • Mass spectrometry identified apolipoprotein A-II as the deposited protein.
  • Genetic sequencing revealed no mutations in the coding sequence of ApoA-II.
  • Acquired monoclonal immunoglobulin light chain amyloidosis (AL-type) and reactive amyloid A amyloidosis (AA-type) were ruled out.

Conclusions:

  • Apolipoprotein A-II amyloidosis is a rare cause of nephropathy.
  • Diagnosis requires advanced techniques like mass spectrometry when common types are excluded.
  • The genetic basis of this rare amyloidosis subtype remains to be fully elucidated.
Keywords:
amyloidosisapolipoprotein A‐IIrenal

More Related Videos

Rapid Generation of Amyloid from Native Proteins In vitro05:48

Rapid Generation of Amyloid from Native Proteins In vitro

Published on: December 5, 2013

6.3K
Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

17.8K

Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.9K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
30
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
23
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
101
Acute Kidney Injury II: Pathophysiology01:29

Acute Kidney Injury II: Pathophysiology

Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
88