Türkiye'de Fenilketonüri Hastalığında Tanı, Tedavi, Izlem ve Uygulamaların Saptanması

Abstract

This study was planned and conducted in order to identify the diagnosis, treatment, monitoring and procedures in the pediatric nutrition and metabolic disease clinics in different regions of Turkey, to evaluate the effectiveness of the screening by determining the date of diagnosis of phenylketonuria (PKU) or hyperphenylalaninemia (HPA) (a total of 1383 individuals, 1215 with PKU and 138 with HPA), to determine the growth and development of individuals by assessing their anthropometric measurements and to evaluate the individuals’ blood phenylalanine levels (last 2-3 years) as well as their compliance. The dates of diagnosis, blood PA levels, last anthropometric measurements (body weight, height) were ascertained from medical dossiers and records. To determine the practices of physicians and dieticians, a multiple-choice questionnaire consisting of the sections entitled “newborn screening and diagnosis,” “medical and medical treatments,” “evaluation of growth-development and nutrition,” “dietary compliance” and “monitoring” was used. The median of the individuals’ date of diagnosis was determined as 30 days after 2006 years, while the median blood PA value of PKU patients was determined as 6.15 mg/dL. The relation between the median blood PA values (mg/dL) and age, as well as the relation between the date of diagnosis (days) were found to be statistically significant. Between the various centers, differences in practice were observed with regards to the blood PA intersection values (mg/dL) accepted for initiation of medical nutrition treatment, the targeted blood PA values (mg/dL) according to the age groups, the recommended protein intake quantities according to the age groups, the recommendation of high protein foods according to PA tolerance, and the recommended frequency of monitoring It was confirmed that it is necessary to develop a guideline specific for our country that covers all practices starting from the screening of newborns.