Avtor/Urednik		Rajer, E; Jerman, M; Praprotnik, M; Avčin, T
Naslov		Ataksija-telangiektazija
Prevedeni naslov		Ataxia-telangiectasia
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 14, št. 3
Leto izdaje		2007
Obseg		str. 133-7
Jezik		slo
Abstrakt		Ataxia-telangiectasia is a rare autosomal recessive disorder of inherited progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infections due to immunodeficiency. A high incidence of malignant diseases and sensitivity to ionising radiation are also characteristic of the disease. The disease is caused by mutation in the ATM gene, which encodes a large protein involved in DNA repair and regulation of cell cycle control. In children ataxia manifests itself when the child walks, while the characteristic telangiectasias of the skin and mucous membranes appear between the ages of 3 and 7 years. Treatment is symptomatic. Currently there is no effective treatment available to halt the disease or prevent progression of the neurological symptoms. In this article the clinical characteristics and pathologic changes of the disease, and a patient treated at the University Children's Hospital Ljubljana, are described.
Deskriptorji		ATAXIA TELANGIECTASIA CHILD