Incidence of phenylketonuria in Lorestan province, West of Iran (2006- 2016)

Phenylketonuria (PKU), is one of the most common metabolic diseases that resulted in
mental retardation.
The study
aimed to
investigat
e
the incidence of p
henylketonuria 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' reco
rds. 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 diseas
e was 3.86
per 10,000
live births in 2014.
Delfan
(
N
ur
abad
)
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' parent
al 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 result
ed
from
cousin marriages
, pay
ing
attention to the screening
tests prior to marriage, particularly in
familiar
marriage is essentia