Caracterização de doenças genéticas raras e ultrarraras atendidas em um ambulatório de genética médica do complexo hospitalar da UFC

Abstract

The definition of rare diseases varies according to the world region. In Brazil, a rare disease is characterized as one that affects up to 65 people per 100,000,000 individuals. The Hospital Complex of the Federal University of Ceará has the Reference Service of Rare Diseases, having one of the two axes to assist diseases of rare genetic origin. However, there is no survey of diseases in Patients seen in the SUS network in Ceará. Thus, the present study aimed to make a clinical epidemiological survey of the cases attended at the Reference Service of the Hospital Complex of the UFC from November 2020 to January 2022 to identify the presence of rare and ultrarraras diseases associated with a bibliographic survey on them. In this study, data were collected from 91 patients, including 3 diseases considered rare (Williams Beuren syndrome, Brachyolmia IV, Sexual Differentiation Disorder (DDS) 46,XY with minifascicular neuropathy); and two ultra rare one\s (Primrose Syndrome and Proteus Syndrome) were identified. Not all patients had molecular diagnosis, due to the availability of specific tests. Two patients had consanguinity, Primrose Syndrome and Sexual Differentiation Disorder. The patients came from the capital of Fortaleza, Caucaia and Tururu, in the state of Ceará. Compared to the cases reviewed in the literature, the patients in the study presented variable and specific symptoms of their genetic condition. No additional findings were observed than those reported in the literature. Thus, given the results presented, it is clear the existence of a significant frequency of rare and ultrarraras syndromes in the state of Ceará.