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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...
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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Sex-linked Disorders01:43

Sex-linked Disorders

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Cystic Fibrosis: Management

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Related Experiment Video

Updated: Jul 14, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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[Fabry disease in childhood].

Brigitte Chabrol1, Hicham Mansour, Aline Cano

  • 1Centre de Référence des Maladies Métaboliques de l'Enfant, Hôpital d'Enfants, CHU de la Timone, Marseille (13), France. brigitte.chabrol@ap-hm.fr

Presse Medicale (Paris, France : 1983)
|June 5, 2007
PubMed
Summary

Fabry disease, a genetic disorder causing glycosphingolipid buildup, often goes undiagnosed in childhood. Early enzyme replacement therapy is crucial for preventing severe organ damage.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Metabolic diseases

Context:

  • Fabry disease results from glycosphingolipid accumulation (globotriaosylceramide) in tissues like kidneys, heart, and brain.
  • Early symptoms such as hypohidrosis and skin lesions are often missed, leading to diagnostic delays.
  • It is an X-linked disorder, but symptomatic carriers (females) can also occur.

Purpose:

  • To highlight the importance of early diagnosis in Fabry disease.
  • To discuss the potential of enzyme replacement therapy (ERT) in preventing severe manifestations.
  • To address the ongoing specialist discussions regarding ERT initiation in childhood.

Summary:

  • Fabry disease is characterized by the accumulation of globotriaosylceramide (Gb3) due to lysosomal dysfunction.

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  • Delayed diagnosis is common due to unrecognized early symptoms, impacting prognosis.
  • Enzyme replacement therapy offers a way to prevent life-threatening renal, cardiac, and neurological complications.

    • Impact:

    • Emphasizes the critical need for timely diagnosis to initiate enzyme replacement therapy.
    • Underscores the potential of ERT to mitigate severe health outcomes associated with Fabry disease.
    • Informs ongoing clinical discussions on pediatric treatment strategies for Fabry disease.