10:45 PM
Thursday 15 September 2022
Babies may be born with genetic diseases, such as Farber’s fatty disease, without the mother’s knowledge, so the infant must be subjected immediately after birth, to tests and analyzes, to check on it.
In the following report, The Consulto reviews everything you need to know about Farber’s disease, according to the GARD Genetic and Rare Diseases Information Center and the National Institute of Neurological Disorders and Stroke (NINDS).
What is Farber’s disease?
An inherited disease that causes large amounts of fat to accumulate around joints, tissues and the central nervous system. It usually appears in early adulthood, but can also occur later in life.
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Symptoms of Farber’s disease in children
A mother can infer that her child has Farber’s disease through some symptoms, including:
Mild impairment of mental abilities.
Delayed growth.
Short stature or fingers.
Muscle spasms.
Difficulty swallowing.
– pain in the joints.
Joint swelling.
– Breathing difficulty.
Vomiting.
– hoarseness
Swollen lymph nodes.
The appearance of nodules under the skin.
In severe cases of Farber’s disease, a child may have:
– splenomegaly.
– Hepatomegaly.
Liver failure.
Ascites, i.e. accumulation of fluid in the abdomen.
– Anemia.
Chronic diarrhea.
Jaundice, i.e. yellowing of the skin, whites of the eyes and color of urine.
– Nystagmus of the eye.
– Hemiplegia.
Thrombocytopenia.
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Causes of Farber’s disease in children
Farber’s disease is caused by a deficiency of the ceramidar enzyme, as a result of the child inheriting a defective gene from the mother or father, which leads to a disturbance in the metabolism of fats.
And it has been proven that children born to fathers with this gene are 25% more likely to develop Farber’s disease, rising to 50% if the mother carries this genetic defect.
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Treatment of Farber’s disease in children
There is currently no definitive treatment for Farber disease, but there are reliable medical procedures to relieve symptoms, most notably:
Corticosteroids: help relieve joint pain.
– Bone marrow transplant: It reduces granulomas in children who have few or no complications in the lung and nervous system.
– Excision of granulomas.
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Does Farber disease cause death?
Most children with the classic form of Farber’s disease die by the age of two, from lung disease.
Babies born with the most severe form of Farber’s disease die six months after birth.
People with the mild form of Farber disease live into their teenage years or adulthood.