Growth in ataxia telangiectasia
نویسندگان
چکیده
Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At time, main severity groups defined in A-T: classic (the more severe form) mild. Poor growth common problem A-T. An objective study was to develop references for Another compare patterns A-T mild with each other the general population, using CDC references. A final examine effects chronic infection on height. Results We found patients were smaller overall, suffered from height weight faltering continued throughout childhood adolescence. When compared references, median heights weights both male female eventually fell or below 3rd centile charts. Height pronounced females. Birthweight lower group whereas birth length not. Finally, we investigated BMI relation number infections no association. Conclusions Classic appears affect utero. Although children appear grow well very early life, begins early, unrelenting.
منابع مشابه
Ataxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
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Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
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متن کاملAtaxia telangiectasia
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BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to i...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2021
ISSN: ['1750-1172']
DOI: https://doi.org/10.1186/s13023-021-01716-5