DETERMINATION OF CYSTIC FIBROSIS MUTATION
FREQUENCY IN PRETERM AND TERM NEONATES
WITH RESPIRATORY TRACT PROBLEMS
Tanriverdi S1, Polat M, Onay H
*Corresponding Author: Sema Tanriverdi, M.D., Assistant Professor, Department of Pediatrics, Division
of Neonatology, Manisa Celal Bayar University Medical School, Uncubozkoy, 45030 Yunusemre,
Manisa, Turkey. Tel: +90-236-236-0330. Fax: +90-236-233-8040. E-mail: sema.tanriverdi@cbu.edu.tr
page: 25
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RESULTS
Forty babies, 20 with respiratory distress and 20
babies without respiratory distress, were included in the
study. Demographic characteristics of the infants revealed
that the mean gestational age was 36.22 ± 3.89 weeks.
Twenty-one of the infants were born preterm and 19 were
born at term. Twenty-two were girls and 18 were boys. The
mean birth weight was 2775.5 ± 952.9 g, the mean birth
height was 47.07 ± 5.45 cm and the mean head circumference
was 33.02 ± 3.2 cm. Demographic characteristics of
the babies in the control and patients groups are shown
in Table 1. In the patient group, the mean gestational age
was 34.25 ± 4.65 weeks; 14 infants were born preterm
and six were born at term. In the control group, the mean
gestational age was 38.2 ± 1.15 weeks; seven of them
were born preterm and 13 were born at term. The prenatal
histories taken from the patient and control groups
revealed that the maternal age was similar in both groups.
No significant difference was found between the patient
and the control groups with regard to incidence of placental
abruption, placenta previa, chorioamnionitis, gestational
diabetes, diabetes mellitus, preeclampsia and eclampsia,
and prenatal steroid administration.
The pathologies and treatments of infants admitted
to the neonatal intensive care unit in the patient group are
listed in Table 2. The mean duration of stay on mechanical
ventilation in the patient group was 2.25 ± 4.49 days, and
the mean duration of oxygen therapy was 13.35 ± 20.71
days. The mean length of hospital stay in the patient group
was 24.65 ± 21.32 days. Of the 20 infants in the control
group, 14 were admitted to the neonatal intensive care unit
due to hyperbilirubinemia, one for urinary tract infection,
four for hypernatremic dehydration, and one for intrauterine
growth restriction. The mean length of hospital stay in
the control group was 4.75 ± 1.97 days.
When the clinical symptoms and signs of respiratory
distress in 20 infants in the patient group were taken
into account, four had a cough, five were wheezing, 10
were grunting, three had apnea, 19 had tachypnea, 15
had retraction, and 12 had findings in lung auscultation
(rales/ rhonchi) (Table 3). When the laboratory findings
of 20 infants in the patient group were examined, five of
them had a positive C-reactive protein (CRP). The mean
CRP value was 0.59 ± 1.14 mg/dl. Ten of the infants had leuko-cytosis with a mean leukocyte value of 11651 ±
5109.40 mm³. Two of the infants had thrombocytopenia,
the average platelet count was 258.45 ± 11.6402.42 mm³.
Five infants had metabolic acidosis. The mean values of
the parameters were as follows: pH 7.31 ± 0.11, bicarbonate
(HCO3) 21.44 ± 3.34 mmol/L, base deficit –3.36 ±
4.42, partial pressure of carbon dioxide (PCO2) 47.61 ±
13.16 mmHg and partial pressure of oxygen (pO2) 57.39 ± 40.56 mmHg. With regard to the radiological findings
of 20 infants in the patient group, 14 had lung infiltration
and six had a ground-glass appearance compatible with
respiratory distress syndrome (RDS).
In the control group, CFTR gene analysis was normal
in 14 infants, E1228G (c.3683A>G) heterozygosity was
detected in one, E217G (c.650A>G) heterozygosity in one,
E632TfsX9 (c.1894_1895delAG) heterozygosity in one,
I807M (c.2421A>G) heterozygosity in two, and S573F
(c.1718C>T) heterozygosity in one (Table 4). Of the six
patients in the control group with heterozygous mutations,
five were hospitalized for hyperbilirubinemia and one for
hypernatremic dehydration. The CFTR gene analysis was
normal in 16 infants with respiratory distress in the patient
group, A46D (c.137C>A) heterozygosity was detected in
one, D1312G (c.3935A>G) heterozygosity in one, R117H
(c.350G>A) heterozygosity one and S1426p (c.4276T>C)
heterozygosity in one (Table 5). Heterozygous mutations
on the CFTR gene were detected in 10 of 40 infants in
the patient and control groups included in the study. The
symptoms and diagnoses of these patients are presented in
Table 6. There was no significant difference in CFTR gene
analysis in the control and the patient groups (p = 0.340).
In the patient group, the mean hospitalization time of 20
symptomatic babies was 24.65 ± 21.32 days, while the
mean hospitalization time of four babies with symptomatic
and heterozygous mutations was 27.50 ± 26.33 days, no
statistically significant difference was found (p = 0.128).
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