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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Minimal Change Disease.

Marina Vivarelli¹, Laura Massella¹, Barbara Ruggiero²

¹Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; and.

Clinical Journal of the American Society of Nephrology : CJASN

|December 13, 2016

Summary

This summary is machine-generated.

Minimal change disease (MCD) causes nephrotic syndrome (NS) with proteinuria and edema, especially in children. While steroids are the main treatment, relapses are common, necessitating advanced therapies like anti-CD20 antibodies for remission.

Keywords:

nephrotic syndrome pathology pediatric nephrology podocyte proteinuria renal

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Area of Science:

Nephrology
Immunology
Pathology

Background:

Minimal change disease (MCD) is a leading cause of idiopathic nephrotic syndrome (NS), particularly in children.
It presents with significant proteinuria, edema, and volume depletion.
Diagnosis in children often relies on clinical response to steroids, equating steroid-sensitive NS with MCD.

Purpose of the Study:

To summarize the key aspects of Minimal Change Disease (MCD).
To discuss the pathogenesis, diagnosis, and treatment of MCD.
To highlight recent advances in MCD therapy.

Main Methods:

Review of existing literature on Minimal Change Disease (MCD).
Analysis of pathological hallmarks (light and electron microscopy).
Discussion of therapeutic strategies, including corticosteroids and novel agents.

Main Results:

MCD is characterized by foot process effacement on electron microscopy, with no visible changes on light microscopy.
Steroid therapy is effective but relapses are frequent, often requiring steroid-sparing agents.
Newer treatments, like anti-CD20 antibodies, show promise for long-term remission.

Conclusions:

MCD pathogenesis likely involves immune dysregulation and podocyte injury.
While steroid-responsive MCD typically has a good prognosis, unresponsive or recurrent cases pose challenges.
Advances in therapy offer hope for improved outcomes and reduced morbidity in MCD patients.