General
Alström syndrome is a very rare genetically determined disorder that affects multiple tissues and organs. To date, it has been described in only a few hundred children worldwide.
Cause
The cause is a genetic mutation in a single specific gene. The exact function of this gene is not fully known, but it is presumed to be broad, which corresponds to the complex symptoms of the syndrome.
Symptoms
Affected individuals tend to have short stature and frequently develop visual and hearing impairments. Their eyes are extremely sensitive to light, and progressive degeneration of the retina occurs, eventually leading to worsening vision. Disruption of the heart muscle may be associated with enlargement of the heart, followed by heart failure.
Some affected individuals develop characteristic skin changes (acanthosis nigricans), in which the skin in body folds becomes darkened and thickened. Patients suffer from various hormonal and metabolic disorders. Pubertal development is often abnormal, and they commonly develop obesity, type 2 diabetes, and high blood pressure at a young age. Intellectual function is generally not significantly affected.
Diagnosis
The above symptoms may lead to suspicion of the diagnosis, but definitive confirmation requires genetic testing.
Treatment
Prevention is not possible, and the syndrome cannot be cured. Individual symptoms are treated as they arise, requiring coordinated care involving internists, ophthalmologists, ENT specialists, and other professionals.
- malá nízka postava
- poruchy zraku
- poruchy sluchu
- oči citlivé na svetlo
- narušenie srdcového svalu (väčšie srdce)
- zmeny kože (ancanthosis nigrans) – v niektorých miestach koža stmavne a zhrubne
- hormonálne a metabolické poruchy
- poruchy pohlavného dospievania
- obezita
- cukrovka 2. typu
- krvný tlak
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