ASPECTS OF QUALITY
OF LIFE IN TREATMENT AND CARE IN PHENYLKETONURIA
Borski K, Strzyżewska R, Kałużny
Ł, Krawczyński M
Institute of Pediatrics,
Poznań University School of Medicine,
Department of
Gastroenterology and Metabolism, Poznań, Poland
Phenylketonuria (PKU, McKusick 261600) is the most
frequent inborn error of metabolism with an incidence of about 1:7500 in
Europe. Treatment with a phenylalanine-restricted diet and monitoring of
blood phenylalanine concentrations has been fundamental for adequate
medical care of PKU patients. Diagnosis by newborn screening and
implementation of a diet in the neonatal period and beyond have resulted in
normal neurological and intellectual development and a normal life span in
PKU patients. At present, maternal PKU and quality of life problems are the
most important issues in PKU. To obtain information about how PKU and its
treatment affect patients' health-related quality of life, we interviewed
both the patients and their parents: 58 PKU children aged 7-11 years and 46
PKU children aged 12-17 years. The quality of life factors examined in
these patients included physical development and general state of health,
emotional health, school and social activities, diet compliance, future
plans and satisfaction with health care. In the first group the sense of
shame caused by the disease, dietary and medical control problems and
relations with healthy peers were strongly emphasized whereas in the second
group of patients maternal PKU and problems related to work, social and
family life were predominant. We concluded that the quality of life of
well-treated and controlled PKU patients should not differ from their
healthy peers. Familiarity with different aspects of quality of life with
this disease is important for implementing appropriate psychosocial
interventions.