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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Ataxia-telangiectasia type I

儿科综合

Common symptoms

湿疹、月经周期改变、色素脱失、肺部感染、共济失调、免疫缺陷、斜视、意向性震颤、睾丸萎缩、反复感染

The pathology of disease

Ataxia-telangiectasia is AR neurodegenerative; childhood ataxia; oculocutaneous telangiectasias; immunodeficiency; cancer risk; ATM; no cure; supportive; genetics.

Symptoms

Childhood ataxia; oculocutaneous telangiectasias; recurrent sinopulmonary; elevated AFP; cancer risk; AR

Causes

ATM mutation; AR; DNA repair; ataxia-telangiectasia.

Treatment

Supportive; IVIG selected; treat infections; cancer surveillance; avoid radiation; genetics; no cure

Dept

Pediatric neurology / immunology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.