Related Experiment Video

Updated: Oct 13, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome

F Mampaso, J Ecija, L Fogue

    Nephron
    |January 1, 1981
    PubMed

    Insights

    Absence of complement component C1q in three siblings correlated with autoimmune disease, presenting with kidney and skin lesions. This suggests a link between C1q deficiency, glomerulonephritis, and Rothmund-Thompson syndrome.

    Area of Science:

    • Immunology
    • Nephrology
    • Genetics

    Background:

    • The study investigates a rare genetic condition involving complement component C1q deficiency.
    • Autoimmune disorders often involve dysregulation of the complement system.

    Observation:

    • Three siblings presented with a complete absence of C1q in their serum.
    • Patients exhibited concurrent renal (hematuria, proteinuria) and cutaneous lesions.
    • Clinical and histological findings were consistent with Rothmund-Thompson syndrome.

    Findings:

    • Renal biopsies revealed mesangial proliferative glomerulonephritis with IgM and C3 deposition.
    • Serological findings indicated an underlying autoimmune disorder.
    • The study identified a combination of three distinct diseases.

    Implications:

    • This case highlights a potential association between C1q deficiency and autoimmune glomerulonephritis.
    • Understanding this link may offer new insights into Rothmund-Thompson syndrome pathogenesis.
    • Further research is warranted to explore the role of C1q in renal and dermatological autoimmune conditions.

    More Related Videos

    A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

    A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

    Published on: September 20, 2018

    Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice09:43

    Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice

    Published on: June 8, 2022

    Related Concept Videos

    Smooth Endoplasmic Reticulum01:21

    Smooth Endoplasmic Reticulum

    Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
    The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
    Cystic Fibrosis: Pathogenesis01:23

    Cystic Fibrosis: Pathogenesis

    Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
    CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
    Renal Corpuscle01:20

    Renal Corpuscle

    The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
    Glomerulus: Structure and Function
    The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous capillaries...
    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 fluid...
    Inflammatory Bowel Disease III: Crohn's Disease01:25

    Inflammatory Bowel Disease III: Crohn's Disease

    Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
    Hypersensitivity Reactions: Immune-Complex Reactions01:19

    Hypersensitivity Reactions: Immune-Complex Reactions

    Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum sickness, a systemic...