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Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

S Tanriverdi
S Tanriverdi
, 
M Polat
M Polat
 et 
H Onay
H Onay
   | 05 juin 2022
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Article Category: Original Article
Publié en ligne: 05 juin 2022
Pages: 25 - 31
DOI: https://doi.org/10.2478/bjmg-2021-0023
Mots clés
© 2021 S Tanriverdi et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

The symptoms and diagnoses of infants that heterozygous CFTR gene mutation was detected in the control and patient groups.

Heterozygous CFTR Gene Mutation (n=10) Symptoms of the Infant Diagnosis of the Infant
E1228G (c.3683A>G) heterozygous asymptomatic hyperbilirubinemia
E217G (c.650A>G) heterozygous asymptomatic hyperbilirubinemia
E632TfsX9 (c.1894_1895delAG) het. asymptomatic hyperbilirubinemia
1807M (c.2421A>G) heterozygous asymptomatic hyperbilirubinemia
1807M (c.2421A>G) heterozygous asymptomatic hyperbilirubinemia
S573F (c.1718C>T) heterozygous symptomatic hypernatremic dyhydration
A46D (c.137C>A) heterozygous tachypnea; oxygen requirement respiratory distress syndrome (RDS)
D1312G (c.3935A>G) heterozygous tachypnea; retraction respiratory distress syndrome (RDS)
R117H (c.350G>A) heterozygous tachypnea; retraction transient tachypnea of newborn
S1426P (c.4276T>C) heterozygous cough; wheezing pneumonia

Demographic characteristics of the control group and the patient group.

Parameters Control Group (n = 20) Patient Group (n = 20) p Value
Gender:
  females 11 11 1.000
  males 9 9
Mean birth weight (g) ± SD (min-max) 3278.00 ± 585.62 (1970.00–4180.00) 2273.00 ± 94.63 (610.00–3850.00) 0.297
Mean birth height (cm) ± SD (min-max) 49.95 ± 1.80 (45.00–53.00) 44.20 ± 6.37 (33.00–51.00 0.186
Mean head circumference (cm) ± SD (min-max) 34.55 ± 1.15 (31.50–37.00) 31.50 ± 3.84 (23.00–37.00) 0.134
Delivery type:
  NspD 5 0 0.017
  C-section 15 20
Gestational age (weeks) 38.20 ± 1.16 (37.00–41.00) 35.25 ± 4.65 (26.00–40.00) 0.062
Intrauterine growth retardation (n) 2 4 0.091
Median Apgar score (1st min.) (min-max) 8 (7–9) 7 (5–8) 0.009
Median Apgar score (5th min.) (min-max) 9 (9–10) 8 (7–9) 0.001

CFTR gene analysis of infants in the control group.

CFTR Gene Analysis Control Group (n=20)
Normal (n) 14
E1228G (C.3683A>G) het. (n) 1
E217G (c.3683A>G) het. (n) 1
E632TfsX9) (c.1894_1895delAG) het. (n) 1
1807M (c.2421A>G) het. (n) 2
S573F (c.1718C>T) het. (n) 1

Pathologies and treatments of infants in the patient group.

Parameters Patient Group (n = 20)
Respiratory distress syndrome (RDS) (n) 9
Congenital pneumonia (n) 2
Pneumonia (n) 4
Transient tacypnea of newborn (n) 5
Surfactant treatment (n) 5
Mechanical ventilation treatment (n) 11
Mean duration of mechanical ventilation (days) 2.25 ± 4.49 (1.00–20.00)
nCPAP treatment (n) 13
Mean duration of nCPAP (days) 9.10 ± 15.43 (1.00–51.00)
Oxygen treatment (n) 17
Mean duration of oxygen therapy (days) 13.35 ± 20.71 (1.00–66.00)
Bronchopulmonary dysplasia (BPD) (n) 3
Steroid treatment (n):
  IV 0
  inhaled 5
Patent ductus arteriosus (n) 4
Pulmonary hypertension (n) 1
Sepsis (n):
  clinical 18
  proven 2
Intraventricular hemorrhage (n) 1
Mean length of stay in hospital (days) 24.65 ± 21.32 (9.00–71.00)

CFTR gene analysis of infants in the patient group.

CFTR Gene Analysis Patient Group (n=20)
Normal (n) 16
A46D (c.137C>A) het. (n) 1
D1312G (c.3935A>G) het. (n) 1
R117H (c.350G>A) het. (n) 1
S1426P (c.4276T>C) het. (n) 1

Symptoms and signs of respiratory distress in the patient group.

Symptoms Patient Group (n=20)
Cough 4
Wheezing 5
Grunting 10
Apnea 3
Tachpnea 19
Retraction 15
Rales/rhonchi 12
Prolonged expiration 1
Tachycardia 2
Oxygen requirement 17
Hypotonia 6
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Langue:
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