Alström syndrome: clinical signs and treatment.

  • Dania Aguilar Suárez Universidad Regional Autónoma de Los Andes
  • Sara Del Rocío De Mora Rosero Universidad Regional Autónoma de Los Andes
  • Nohely Gabriela Espinoza Macías Universidad Regional Autónoma de Los Andes
Keywords: Molecular studies, alternatives, specific treatment, ALMS1 gene

Abstract

This is a monogenic syndrome caused by mutations in the ALMS1 gene, characterized by progressive multiorgan damage that can lead to premature death. The general objective of this research is to be able to investigate the different clinical aspects of Alström syndrome and thus identify diagnostic guidelines and alternative therapies. This work was carried out using the descriptive observational study methodology and several reviews of bibliographic data were carried out through the internet. It was concluded that Alström syndrome does not have a specific treatment, but there are different alternatives that help manage this condition, through molecular studies, which help its diagnosis.

Published
2022-12-01