Factores genéticos y hormonales relacionados con los trastornos fenotípicos de la anemia de Fanconi y síndrome de Laron

Abstract

Abstract: Introduction: Fanconi anemia (FA) and Laron syndrome (LS) are disorders rare genetic genes, its pathophysiology lies in mutations of one of the 22 genes identified of the FA (FANC) and growth hormone receptor complementation groups respectively. The possibility of a dual diagnosis between these entities constitutes a infrequent finding that is addressed through two cases presented throughout this job. Materials and methods: searches were carried out in the following databases: PubMed, CINAHL, Scielo, LILACS, Elsevier, Google Scholar, and Oxford Journals Collection. Those case report articles and narrative reviews that address the topic to deal with. Finally, five articles were taken into account. Results: analyzing the articles presented mutations in the FANC-A gene constitute responsible for 60-70% of cases of Fanconi anemia and gene mutations STAT5B and IGFBP3 that give rise to a phenotype similar to that of Laron syndrome. Conclusion: AF is a disease with a very heterogeneous clinical picture and the presence of short stature is the result of growth hormone deficiency or insensitivity to growth hormone hormone.