[A child of Fabry disease with appendicitis as initial symptom and family screening]

The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...

Diagnosing and managing appendicitis requires a structured and comprehensive approach that spans from initial assessment to postoperative care. Here is an overview of the process:
Diagnosing Appendicitis
It requires a multifaceted approach, starting with a detailed physical examination to pinpoint the location and nature of the pain and identify any associated symptoms. Laboratory tests play a crucial role. A complete Blood Count (CBC) typically reveals leukocytosis (an increased number of...

Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):

Overview

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,...