Hiperfenilalaninemili Hastaların Gebelik Sonuçlarının Incelenmesi
Özet
After almost a century of research, phenylketonuria still
remains as the most prominent metabolic cause of intellectual disability. Early
diagnosis and treatment of phenylketonuria, which became possible by widespread
neonatal screening, has brought forth new challenges including maternal
phenylketonuria: a teratogenic syndrome encompassing disturbances such as
intellectual disability, microcephaly, congenital heart disease and intrauterine growth
retardation in the offspring of women with untreated hyperphenylalaninemia during
pregnancy. This study aims to evaluate the pregnancy outcomes of patients
diagnosed with phenylketonuria and mild hyperphenylalaninemia in one of the most
experienced reference metabolic centers in Turkey and reports the largest series of
pregnancies complicated by hyperphenylalaninemia in the country to date. Data were
collected from hospital records, patient interviews, physical examinations, and
cognitive and developmental tests. A total of 17 women with hyperphenylalaninemia
were included with a total of 41 pregnancies resulting in 23 live births, 10 from
treated and 13 from untreated pregnancies. All children born to phenylketonuric
mothers who were not treated during pregnancy had microcephaly, some had
additional findings attributed to maternal phenylketonuria, and some had
hyperphenylalaninemia themselves. Cases of partial mole hydatidiform, facial
dysmorphism, developmental delay and esophageal atresia with tracheoesophageal
fistula were noted from treated pregnancies. Data analysis revealed a reduction in
adverse outcomes with treatment during pregnancy as expected, along with
information regarding metabolic control and follow-up. This case series may serve as
a starting point in the improvement of care for pregnant women with
hyperphenylalaninemia in Turkey and can be expanded by following larger cohorts
of hyperphenylalaninemic patients diagnosed with neonatal screening.
