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