Related Experiment Video

Updated: Aug 4, 2026

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

Renal disease in Marfan syndrome

G D Sbar1, V S Venkataseshan, Z Huang

  • 1Department of Pathology, Barnert Hospital, Paterson, N.J. 07514, USA.

American Journal of Nephrology
|January 1, 1996
PubMed

Insights

Marfan syndrome patients can experience kidney problems like microhematuria and proteinuria. Renal biopsies revealed glomerular and arterial changes linked to connective tissue defects in this genetic disorder.

Area of Science:

  • Nephrology
  • Genetics
  • Pathology

Background:

  • Marfan syndrome is a genetic connective tissue disorder affecting multiple organ systems.
  • Kidney involvement in Marfan syndrome is not well-characterized, but renal abnormalities can occur.

Observation:

  • Four individuals with Marfan syndrome presented with microhematuria and proteinuria.
  • Renal biopsies in two patients showed focal segmental mesangial matrix increase and early sclerosis.
  • Ultrastructural analysis revealed subendothelial widening with abnormal microfibrils and arterial wall changes including elastolysis.

Findings:

  • Glomerular basement membrane alterations were observed in Marfan syndrome patients with proteinuria and microhematuria.
  • Arterial changes in renal biopsies included elastolysis and fragmentation of the internal elastic lamina.

Implications:

  • These renal findings suggest a potential link between Marfan syndrome's connective tissue defects (fibrillin, collagen IV) and glomerular basement membrane pathology.
  • Understanding these kidney manifestations is crucial for comprehensive Marfan syndrome patient management and monitoring.

More Related Videos

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation08:43

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

Published on: May 31, 2016

A Mouse 5/6th Nephrectomy Model That Induces Experimental Uremic Cardiomyopathy07:52

A Mouse 5/6th Nephrectomy Model That Induces Experimental Uremic Cardiomyopathy

Published on: November 7, 2017

Related Concept Videos

Aortic Regurgitation III: Medical Management01:25

Aortic Regurgitation III: Medical Management

Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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 any history...