PERLMAN SYNDROME: Correlations between Genetic Mutation, Clinical Manifestations and Survival Prognosis: A systematic review

Abstract

Introduction: Perlman Syndrome, also known as nephroblastomatosis perinatal, is a rare genetic condition, with multisystemic involvement and with autosomal recessive inheritance. Objectives: describe, through review systematic review of six publications between 2013 and 2024, the genetic profile, epidemiology, clinical manifestations and therapeutic management of Perlman and seek genotype-phenotype correlation of this condition, in addition to correlation between mutation and survival time. Methodology:. The review selected six viable articles based on the pre-defined inclusion and exclusion criteria and the descriptor equation―Perman Syndromeǁ AND―DIS3L2ǁ in the database PubMed, Cochrane and BVS, totaling five case reports, a case series. Data extraction was carried out using a standardized form to collect variables. Next, statistical analysis of quantitative and qualitative, through the calculation of central tendency, median and frequency. Results and discussion: The analysis of the selected cases showed a predominance in the general female and white group, as well as in the group with homozygous mutation. Furthermore, it showed a higher prevalence of patients with homozygous mutation, in relation to heterozygous mutation. With regards to the prognosis, patients with homozygous mutation had survival considerably reduced compared to the group of patients with mutation heterozygous. Conclusion: The analysis of the selected cases corroborates the literature, showing a very varied clinical picture, low survival time and, despite the limitations faced in this systematic review, the present study contributes to a better understanding of the syndrome and encourages the need for ongoing research into this rare condition, aiming for better understanding and better therapeutic approach in order to increase survival time, as well as the quality of life of affected pati