Author/Authors :
Motamedi, Naser Department of Health Services - Lorestan University of Medical Sciences, Khorramabad, Iran , Goodarzi, Elham Social Development and Health Promotion Research Center - Gonabad University of Medical Sciences, Iran , Rahimi Pordanjani, Sajjad Department of Public Health - School of Health - Semnan University of Medical Sciences, Iran , Valizadeh, Rohollah Student Research Committee - Urmia University of Medical Sciences, Iran , Moradi, Yousef Pars Advanced and Minimaly Invasive Manners Research Center - Pars Hospital, Tehran, Iran , Sohrabivafa, Malihe Department of Health and Community Medicine - Faculty of Medicine - Dezful University of Medical Sciences, Iran , Beiranvand, Reza Faculty of Medical Sciences, Shoushtar, Iran , Dehghani, Leila Department of Public Health - Behbahan Faculty of Medical Sciences, Iran , Mamdohi, Shahram Department Diseases County of Boroujerd and Legal - Medical School, Boroujerd, Iran , Khazaei, Zaher Social Determinants of Health Research Center - Kurdistan University of Medical Sciences, Sanandaj, Iran
Abstract :
Background: Phenylketonuria (PKU), is one of the most common metabolic diseases that resulted in
mental retardation. The study aimed to investigate the incidence of phenylketonuria in Lorestan
province, Iran.
Materials and Methods: The study was an observational-descriptive study which included all
identified cases of patients from April 2006 to February 2016. The required data were collected from
patients' records. The Entered variables in data survey checklist included gender, date of birth, County
Residence, parental education, parental occupation, parental kinship, conducting genetic consultation
and screening. Recorded data were analyzed in Stata-12 software after completion.
Results: Newborns were identified with Phenylketonuria during the years 2006 to 2016 and incidence
rate calculated 1.91 per 10,000 live births. The highest incidence rate of disease was 3.86 per 10,000
live births in 2014. Delfan (Nurabad) County and Borujer County had maximum and minimum rate of
incidence with 5.94 per 10,000 and 0.64 per 10,000, respectively. Among 74 patients, 42 (56%), were
female and there was patients' parental kinship in 82% of parents that about 92 percent of suffering
children parents had done genetic consultation.
Conclusion: The incidence of phenylketonuria in the Lorestan province is more than other provinces.
Given that most cases of patients resulted from cousin marriages, paying attention to the screening
tests prior to marriage, particularly in familiar marriage is essential.
Keywords :
Incidence rate , Children , Iran , Phenylketonuria
