Related Experiment Video

Updated: May 24, 2026

Subcutaneous Angiotensin II Infusion using Osmotic Pumps Induces Aortic Aneurysms in Mice
07:21

Subcutaneous Angiotensin II Infusion using Osmotic Pumps Induces Aortic Aneurysms in Mice

Published on: September 28, 2015

Angio-oedema due to hereditary C1 inhibitor deficiency in children

T Caballero1

  • 1Servicio de Alergia, Hospital La Paz Health Research Institute (IdiPaz), Biomedical Research Network on Rare diseases-U754 (CIBERER), Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.

Allergologia Et Immunopathologia
|March 16, 2012
PubMed

Insights

Hereditary angio-oedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare genetic disorder causing swelling attacks. Early diagnosis and treatment in children can significantly reduce the disease

Area of Science:

  • Pediatric Allergy and Immunology
  • Rare Genetic Disorders
  • Immunology

Background:

  • Hereditary angio-oedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare inherited disorder.
  • Characterized by recurrent swelling episodes (cutaneous, abdominal, laryngeal).
  • Onset typically in childhood/adolescence, with earlier onset linked to increased severity.

Purpose of the Study:

  • To review the clinical presentation and management of HAE-C1-INH in children.
  • To highlight challenges in pediatric diagnosis.
  • To discuss available and emerging treatments for pediatric HAE-C1-INH.

Main Methods:

  • Literature review of pediatric HAE-C1-INH cases and treatment data.
  • Analysis of diagnostic delays and challenges.
  • Evaluation of current therapeutic options and their pediatric evidence.

Main Results:

  • HAE-C1-INH in children causes significant physical, psychological, and academic impairment.
  • Diagnostic delays are common due to varied symptoms mimicking gastrointestinal issues.
  • Pediatric efficacy and safety data exist for some newer HAE-C1-INH treatments.

Conclusions:

  • Early diagnosis of HAE-C1-INH in children is crucial.
  • Appropriate and timely therapy can mitigate the disease burden in pediatric patients.
  • Ongoing research and data collection are needed for pediatric-specific treatment guidelines.

Keywords:
Angio-oedemaC1 inhibitor deficiencyC1-inhibitorChildrenDiagnosisHereditary angio-oedemaTreatment

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

Using In Vivo and Tissue and Cell Explant Approaches to Study the Morphogenesis and Pathogenesis of the Embryonic and Perinatal Aorta10:57

Using In Vivo and Tissue and Cell Explant Approaches to Study the Morphogenesis and Pathogenesis of the Embryonic and Perinatal Aorta

Published on: September 12, 2017

Related Concept Videos

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...
Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors01:30

Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors

Angiotensin-converting enzyme (ACE), a vital component of the renin-angiotensin-aldosterone system, is abundant in lung endothelial cells. ACE converts the inactive decapeptide, angiotensin I, into the active octapeptide, angiotensin II. This potent vasoconstrictor narrows blood vessels, increasing resistance to blood flow and elevating blood pressure. Angiotensin II also stimulates aldosterone production, encouraging kidney cells to reabsorb more sodium and water from urine, thereby increasing...
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...
Cytotoxic Edema: Pathophysiology01:21

Cytotoxic Edema: Pathophysiology

Cytotoxic edema is a form of cerebral edema characterized by intracellular swelling of neurons, astrocytes, and other glial cells. It develops when the mechanisms responsible for maintaining ionic gradients across the cell membrane become impaired. Under normal physiological conditions, the sodium–potassium ATPase actively transports sodium ions out of the cell and potassium ions into the cell, preserving osmotic balance and enabling electrical signaling. This pump requires a continuous supply...
Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...