Strategie attuali per uno studio genetico delle malattie infiammatorie croniche in età pediatrica

Translated title of the contribution: An update about the approaches for a genetic investigation of the rheumatic disorders in childhood

Research output: Contribution to journalArticle

Abstract

At present, the genetic approach to the study of rheumatic disorders in childhood is a hot topic since new prospective are ongoing. In particular, many clinical genetic studies have demonstrated that some rheumatic diseases have mendelian type of inheritance. This finding has changed the physicians' opinion about several disorder which were considered to have an immunopathological basis until few years ago; and several polymorphisms of gene or gene-promoters have been discovered. These genetic abnormalities are of chronic inflammation-related genes and the are able to modify the clinical features of the same disease. The results of these investigations represent the armamentarium that any paediatric rheumatotologist has to know in order to treat his patients at best. The linkage between rheumatologic disorders and HLA system or other contiguous genes such as TNF, MIC-A and MIC-B genes have an epidemiological role rather than a diagnostic one. Herein the following topics are discussed: - rheumatic disorders with a mendelian genetic inheritance such as familial Mediterranean fever, hypeimmunoglobulin D syndrome (Dutch fever), TRAPS, the inherited defects of apoptosis; - the metabolic disease that may led to rheumatological symptoms such as aspartylglucosaminuria or prolidase deficiency; - the pathogenetical role of some polymorphysms of the main inflammatory-related cytokines. In this review, we focus on our own experience about the periodic fevers and Behçet disease.

Translated title of the contributionAn update about the approaches for a genetic investigation of the rheumatic disorders in childhood
Original languageItalian
Pages (from-to)46-55
Number of pages10
JournalGaslini
Volume33
Issue number1
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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