Fabry disease: genetics, pathology, and treatment
Rev. Assoc. Med. Bras. (1992)
;
66(supl.1): s10-s16, 2020. graf
Article
in English
| LILACS
| ID: biblio-1057106
ABSTRACT
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 18,454 and 1117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosomes of different types of cells of the heart, kidneys, skin, eyes, central nervous system, and gastrointestinal system, and may lead to different clinical scenarios. The onset of symptoms occurs during childhood, with acroparesthesia, heat intolerance, and gastrointestinal symptoms, such as nausea, vomiting, abdominal pain, and neuropathic pain. Subsequently, symptoms related to progressive impairment appear, such as angiokeratomas, cornea verticillata, left ventricular hypertrophy, myocardial fibrosis, proteinuria, and renal insufficiency. The latter being the main cause of death in FD. The gold standard for diagnosis is the genetic analysis in search of mutation, in addition to family history. In homozygous patients, the enzyme activity can also be used. Once the diagnosis is confirmed, the patient and their family should receive genetic counseling. The treatment, in turn, currently focuses mainly on replacing the enzyme that is absent or deficient by means of enzyme replacement therapy, with the purpose of avoiding or removing deposits of Gb3. Chaperones can also be used for the treatment of some cases. It is considered that the specific treatment should be initiated as soon as a diagnosis is obtained, which can change the prognosis of the disease.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Fabry Disease
/
Renal Insufficiency, Chronic
/
Enzyme Replacement Therapy
/
Kidney
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Rev. Assoc. Med. Bras. (1992)
Year:
2020
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital do Rim/BR
/
Universidade Federal de São Paulo/BR
Similar
MEDLINE
...
LILACS
LIS