Related Experiment Video

Updated: Aug 31, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.6K

Juvenile polyposis: Focus on less described manifestations

Jean-Christophe Saurin1, Laura Calavas1, Claire Caillot2

  • 1Gastroenterology Unit, Hospices Civils de Lyon, Hôpital E. Herriot, Lyon, France.

Best Practice & Research. Clinical Gastroenterology
|August 21, 2022
PubMed

Insights

Juvenile polyposis is a rare genetic disorder with varied presentations. Management requires expert centers due to potential links with Hereditary Hemorrhagic Telangiectasia and complex patient needs.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatrics

Background:

  • Juvenile polyposis (JP) is a heterogeneous disorder with diverse genetic causes.
  • JP can present with varying clinical manifestations and genetic backgrounds.
  • Association with Hereditary Hemorrhagic Telangiectasia (HHT) necessitates distinct management strategies.

Purpose of the Study:

  • To explore less-understood aspects of juvenile polyposis.
  • To highlight the importance of specialized care for JP patients.
  • To differentiate JP management from colonic involvement and epidemiology.

Main Methods:

  • Review of current international recommendations for JP management.
  • Analysis of clinical presentations and genetic heterogeneity in JP.
  • Focus on non-colonic manifestations and associated syndromes.

Main Results:

  • JP exhibits significant genetic heterogeneity, influencing clinical outcomes.
  • Co-occurrence with HHT requires integrated, multidisciplinary care.
  • Expert centers are crucial for managing the multifaceted risks of JP.

Conclusions:

  • Juvenile polyposis management is complex and requires specialized expertise.
  • International guidelines aid in standardizing care for this rare condition.
  • Restricting care to expert centers ensures comprehensive management for patients and families.

Keywords:
CancerHereditary haemorragic telangiectasiaJuvenilePolyposis

More Related Videos

Targeting Alpha Synuclein Aggregates in Cutaneous Peripheral Nerve Fibers by Free-floating Immunofluorescence Assay08:33

Targeting Alpha Synuclein Aggregates in Cutaneous Peripheral Nerve Fibers by Free-floating Immunofluorescence Assay

Published on: June 25, 2019

8.3K
Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

15.0K

Related Concept Videos

Other Disorders of Digestive System01:30

Other Disorders of Digestive System

The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
956
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
28
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.9K
Other Pulmonary Disorders01:17

Other Pulmonary Disorders

Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
899
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
73
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
479