Banca de DEFESA: ANALICE SAMPAIO DE ALMEIDA BOMFIM

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : ANALICE SAMPAIO DE ALMEIDA BOMFIM
DATE: 30/08/2023
TIME: 15:00
LOCAL: presencial
TITLE:

Epidemiological profile and clinical status of phenylketonurics in the State of Alagoas

KEY WORDS:

Phenylketonuria, neonatal screening, epidemiological profile, complications, cognitive impairment, health conditions

PAGES: 35
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

Phenylketonuria or PKU is an ininate error of amino acid metabolism caused by the mutation of the gene encoding the liver enzyme phenylalanine hydroxylase. This enzymatic defect, related to autosomal recessive inheritance, leads to the accumulation of phenylalanine and its metabolic in the bloodstream and tissues that may imply neurotoxicity and cause irreversible cognitive and neurological damage, including mental retardation, when not diagnosed and treated early. Dietotherapy is the basis of the treatment of this aminoacidopathy and consists of a restrictive diet associated with the use of metabolic formula throughout life. This cross-sectional and observational study has, to date, a sample of 27 participants in follow-up to the Reference Service in Neonatal Screening (SRTN) of the State of Alagoas and aims to analyze the epidemiological profile and clinical situation of alagoan phenylketonurics. The variables surveyed were collected during a face-to-face interview through a questionnaire prepared by the executing researcher followed by physical examination and review of medical records. For the crossing between categorical variables, the chi-square test and fisher's exact test were used when necessary. The differences were considered statistically significant for p < than 5%. Preliminary results reveal that, of the 27 patients, 14 (51.83%) are children under 11 years of age, 70.40% male and 74.10% from the interior of Alagoas. All are single and only 3/27 have some paid activity. Only 29.60% have a family income above 2 minimum wages and 33% receive disease assistance because they have clinical complications and/or cognitive impairment. More than 80% reported clinical complications and 66.70% are classified as mild PKU. Adequate metabolic control was observed in only 22.20% of the study participants. Statistically significant associations were observed between the use of metabolic formula and the presence of clinical complications (p = 0.03) and between cognitive impairment associated with receiving social benefit p < 0.001. The shortage through the state program of acquisition and distribution of these formulas is considered by 74.10% the main factor that impairs the treatment and continuity of treatment. Finally, most alagoan phenylketonurics, although screened and assisted by SRTN/AL, suffer sequelae, avoidable, related to treatment conditions and have compromised health conditions.

BANKING MEMBERS:
Interno(a) - 1627935 - AUXILIADORA DAMIANNE PEREIRA VIEIRA DA COSTA E SILVA
Externo(a) à Instituição - GRACILIANO RAMOS ALENCAR DO NASCIMENTO
Interno(a) - 7530212 - MERCIA LAMENHA MEDEIROS
Interno(a) - 2370894 - MICHELLE JACINTHA CAVALCANTE OLIVEIRA
Interno(a) - 1108003 - REGINALDO JOSE PETROLI
Presidente - 384.145.544-15 - SAMIR BUAINAIN KASSAR - UNCISAL