ABORDAREA PACIENŢILOR CU PROBLEME IMUNOLOGICE ÎN CADRUL MALADIILOR GENETICE DE METABOLISM.

Approach to the pacients with immunologic problems in inherited metabolic diseases.

A number of children with inherited metabolic diseases have immunologic problems that result in increased susceptibility to infection. In some, infections are secondary to chronic disease, malnutrition, or poor control of swallowing and the resulting aspiration. In most metabolic defects the immunologic abnormalities are secondary to the metabolism derangement. In the review are presented: - Inherited metabolic diseases associated with T-cell immunodeficiency (purine nucleoside phosphorylase) - PNP-deficiency (lysinuric protein intolerance; Menkes disease; Zellweger syndrome); - Inherited metabolic diseases associated with B-cell immunodeficiency (nucleotide depletion syndrome); - Transcobalamin II deficiency; propionic aciduria; - Inherited metabolic diseases associated with combined T-cell and B-cell immunodeficiency (adenosine deaminase - ADA - deficiency; acrodermatitis enteropathica; biotinidase deficiency; hereditary orotic aciduria; deficiency of intestinal folic acid absorbtion; deficiency of alfa-mannosidase; methylmalonic aciduria); - Inherited metabolic diseases associated with phagocyte immunodeficiency (galactosemia; glycogen storage diseases GSD types Ib and I c; X-linked cardioskeletal myopathy - Barth syndrome; glutathione synthetase deficiency; Pearson syndrome; Smith-Lemli-Opitz syndrome; acrodermatitis enteropathica, methylmalonic aciduria, propionic aciduria, lysinuric protein intolerance, alpha-mannosidosis); - Inherited metabolism diseases associated with NK-cell immunodeficiency (lysinuric protein intolerance, Chediak-Higashi syndrome; Sutor syndrome; Griscelli syndrome; xeroderma pragmentorum). [ABSTRACT FROM AUTHOR]

Un număr de copii cu maladii genetice de metabolism au probleme imunologice care determină creşterea susceptibilităţii la infecţii. La unii copii, infecţiile sunt secundare bolilor cronice, malnutriţiei sau unui control ineficient al deglutiţiei, cu fenomene de aspiraţie în căile aeriene. În cele mai multe boli metabolice, anomaliile imunologice sunt secundare dereglării metabolice. Lucrarea prezintă: - Bolile genetice de metabolism asociate cu imunodeficienţă a celulelor T (deficienţa de purin nucleozid fosforilază; intoleranţa proteică cu lizinurie; boala Menkes; sindromul Zellweger); - Bolile genetice de metabolism asociate cu imunodeficienţă a celulelor B (sindromul de depleţie excesivă a nucleotidelor; deficienţa de transcobalamină II; aciduria propionică); - Bolile genetice de metabolism asociate cu imunodeficienţă T şi B - celulară (deficienţa de adenozin deaminază; acrodermatita enteropatică; deficienţa de biotinidază; aciduria orotică ereditară; deficienţa de alfa-manozidază; deficienţa absorbţiei intestinale a acidului folic; aciduria metilmalonică); - Bolile genetice de metabolism asociate cu imunodeficienţa celulelor fagocitare (galactozemia congenitală; glicogenozele tipurile I b şi I c); miopatia cardio-scheletală X-linkată (sindromul Barth); deficitul de glutation sintetază; sindromul Pearson; sindromul Smith-Lemli-Opitz; acrodermatita enteropatică; aciduria metilmalonică; aciduria propionică, intoleranţa la proteinele cu lizină; alfa manosidoza; - Boli genetice de metabolism asociate cu intoleranţă proteică cu lisinurie, sindromul Chediak-Higashi; sindromul Sutor; sindromul Griscelli; xeroderma pygmentosum. [ABSTRACT FROM AUTHOR]

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