Síndrome de Laron: aspectos clínicos y pronóstico en pacientes tratados con mecasermina

Abstract

Introduction: Laron Syndrome is a hereditary autosomal recessive disease, characterized in the pediatric patient by short stature, as a result of hormonal alterations evidenced by high levels of growth hormone (GH) and decreased levels of the insulin-like growth factor 1 (IGF-1) in blood. Objectives: Define the clinical aspects of Laron Syndrome as well as the prognosis in patients treated with mecasermin. Materials and methods: Narrative literature review. Information was extracted from relevant topics and articles from the scientific libraries Scopus, and Data from the Ministry of Public Health of Ecuador, inclusion and exclusion criteria were applied, as well as bibliographic terms such as DeCS and MeSh with keywords in English and Spanish, respectively; in addition, in part of the selection, boolean operators were used. Results: In this investigation the clinical aspects such as; short satures according to age, prominent forehead, short extremities and reduced genitalia were ratified; in addition GR values may be elevated or decreased, whereas IGF-1 levels are always decreased. Likewise, different studies have found the cardiovascular system does not suffer genetic or congenital alterations. Furthermore, two new mutations of the c.808A >G (p.I270V) protein and the c.1707-1710 protein from (p. E570AFs*30) were found. About the prognosis of patients treated with mecasermin; during the first year they showed a 7,4 cm gain in height, concluding that by the end of the treatment they could gain 13 cm or more; considering that the treatment can be administered from 2 to 18 years of age. Side effects include hypoglycemia and intracranial hypertension. Conclusion: Laron Syndrome is primarily characterized by short stature in accordance with age. Laboratory tests may find elevated GH levels, with IGF-1 levels always decreased. The only treatment available for this disease as of now is mecasermin, a recombinant version of IGF-1. Mecasermin is effective for the growth of patients and the long-term prognosis is good.