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Cystic Fibrosis: Pathogenesis

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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.
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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...
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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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[Fabry disease].

F Stephan1, R Haber1

  • 1Département de dermatologie, Hôpital Hôtel-Dieu de France, Faculté de médecine, Université Saint-Joseph, Beyrouth, Liban.

Annales De Dermatologie Et De Venereologie
|January 21, 2017
PubMed
Summary
This summary is machine-generated.

Fabry disease is a genetic disorder caused by alpha-galactosidase A deficiency, leading to glycosphingolipid buildup. Early diagnosis and multidisciplinary management, including enzyme replacement and gene therapy, significantly improve patient outcomes.

Keywords:
Alpha-galactosidase AAngiokeratomaAngiokératomesClinical signsFabry diseaseMaladie de FabryManifestations cliniquesSphingolipidosesSphingolipidosis

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Dermatology

Background:

  • Fabry disease, an X-linked sphingolipidosis, stems from alpha-galactosidase A deficiency.
  • This deficiency causes progressive glycosphingolipid accumulation, affecting multiple organ systems.
  • Clinical manifestations include cutaneous, neurological, and cardiac involvement, impacting quality of life.

Purpose of the Study:

  • To review the clinical presentation, diagnosis, and management of Fabry disease.
  • To highlight the role of dermatologists in identifying and managing the disease.
  • To discuss recent therapeutic advancements and their impact on prognosis.

Main Methods:

  • Clinical review of Fabry disease.
  • Diagnostic confirmation through enzyme activity assays and molecular studies.
  • Multidisciplinary management strategies including symptomatic and specific treatments.

Main Results:

  • Angiokeratomas are common but non-specific cutaneous signs.
  • Diagnosis relies on clinical suspicion, family history, and confirmatory tests.
  • Current treatments improve survival and quality of life.

Conclusions:

  • Advances in enzyme replacement therapy and gene therapy are transforming Fabry disease prognosis.
  • Multidisciplinary care, involving dermatologists, is crucial for optimal patient management.
  • Early diagnosis and intervention are key to improving long-term outcomes.