Related Experiment Video
Updated: Jul 18, 2026
11:20
Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
Published on: March 21, 2018
11.1K
Tissue is the issue: when a second biopsy reveals the true diagnosis
Anne-Marie Bogaert1, Anne Hoorens2, Marleen Praet2
1Department of Nephrology, AZ Sint-Elisabeth, Zottegem, Belgium.
Clinical Kidney Journal
|February 10, 2021
Summary
Genetic testing revealed a COL4A3 mutation in a patient with late-onset focal segmental glomerulosclerosis (FSGS). This finding helped avoid unnecessary immunosuppressive treatment, highlighting the importance of genetic analysis in unexplained FSGS.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- Minimal glomerular changes on initial biopsy can evolve over time.
- Nephrotic proteinuria necessitates further investigation into underlying causes.
Observation:
- A patient initially presenting with minimal glomerular changes developed nephrotic proteinuria.
- A repeat kidney biopsy revealed focal segmental glomerulosclerosis (FSGS).
- Electron microscopy suggested a genetic etiology for the FSGS.
Findings:
- Next-generation sequencing identified heterozygosity for a mutation in the COL4A3 gene.
- This mutation is associated with collagen IV nephropathies and late-onset FSGS.
Implications:
- Identifying a genetic cause for FSGS can prevent the use of ineffective immunosuppressive therapies.
- Re-biopsy and electron microscopy are crucial for diagnosing unclear cases of proteinuria.
- Genetic testing should be considered for adult-onset FSGS when clinical-pathological assessment is inconclusive.
Keywords:
collagen IV nephropathiesfocal segmental glomerulosclerosisgene expressionglomerulonephritisMore Related Videos
Related Concept Videos
01:24Tissue Transplantation
Tissue transplantation is a significant medical procedure involving the transfer of cells, tissues, or organs from a donor to a recipient, with the primary aim of restoring lost functions. This procedure is crucial in treating a broad spectrum of diseases, including kidney diseases, liver failure, heart disease, and certain types of cancers.
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...
01:27Myocarditis II: Clinical Features and Diagnostic Tests
Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
01:24Healing II: Complications
Complications during healing arise when tissue repair is altered by local or systemic factors. These changes involve abnormal collagen deposition, altered biomechanics, and reduced vascular supply, impairing restoration of normal structure and function.Loss of FunctionScar tissue differs significantly from the original tissue it replaces. In the skin, fibrosis lacks adnexal structures such as hair follicles, sebaceous glands, and sweat glands. Their absence reduces tactile sensitivity, impairs...