The incidence of phenylketonuria and the evaluation of the indicators program in the southeast of Iran during the years 2012–2019

Abstract

IntroductionScreening for phenylketonuria (PKU) is a public health strategy that is used to diagnose and treat patients with PKU to prevent severe neurological diseases. The purpose of this study was to determine the incidence of phenylketonuria based on the results of the newborn screening program and to evaluate the indicators of this program at Kerman University of Medical Sciences, southeast Iran. Materials and methodsIn this study, infants referred to sampling centers for screening in the cities covered by the Kerman University of Medical Sciences were investigated during the years 2012–2019. The screening information was obtained from the data recorded in the newborn screening program and the information about the patients from the national form of the epidemiological survey of the occurrence of genetic diseases in the Kerman health department. Excel software was used to analysis descriptive statistics, draw diagrams. ResultsThe screening coverage was 96.07%. 83.9% of infants were screened during the 3rd to 5th day of birth. The incidence of phenylketonuria was 1.27 per 10,000 live births. The highest incidence was related to the cities of Erzuye (11.5 per 10 thousand live births) and Baft (5.2 per 10 thousand live births). In total, 0.45% of the samples were inappropriate. In 72% of sick babies, the treatment was started before 21 days, 100% of patients identified in screening were the first child of the patient in the family and 64.5% of the parents of the patients were consanguineous. Discussion and conclusionThe incidence of phenylketonuria in Kerman is in line with the national average. The implementation of the screening program had a significant impact on the timely diagnosis and the timely initiation of treatment. It is necessary to increase the level of awareness of households regarding the consequences of consanguineous marriages, especially in areas with a high prevalence of phenylketonuria.