Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
, und | 05. Juni 2022
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Article Category: Original Article
Online veröffentlicht: 05. Juni 2022
Seitenbereich: 25 - 31
DOI: https://doi.org/10.2478/bjmg-2021-0023
Schlüsselwörter
© 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.
| 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.
| 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 ( |
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.
| Normal ( |
14 |
| E1228G (C.3683A>G) het. ( |
1 |
| E217G (c.3683A>G) het. ( |
1 |
| E632TfsX9) (c.1894_1895delAG) het. ( |
1 |
| 1807M (c.2421A>G) het. ( |
2 |
| S573F (c.1718C>T) het. ( |
1 |
Pathologies and treatments of infants in the patient group.
| Respiratory distress syndrome (RDS) ( |
9 |
| Congenital pneumonia ( |
2 |
| Pneumonia ( |
4 |
| Transient tacypnea of newborn ( |
5 |
| Surfactant treatment ( |
5 |
| Mechanical ventilation treatment ( |
11 |
| Mean duration of mechanical ventilation (days) | 2.25 ± 4.49 (1.00–20.00) |
| nCPAP treatment ( |
13 |
| Mean duration of nCPAP (days) | 9.10 ± 15.43 (1.00–51.00) |
| Oxygen treatment ( |
17 |
| Mean duration of oxygen therapy (days) | 13.35 ± 20.71 (1.00–66.00) |
| Bronchopulmonary dysplasia (BPD) ( |
3 |
| Steroid treatment ( |
|
| IV | 0 |
| inhaled | 5 |
| Patent ductus arteriosus ( |
4 |
| Pulmonary hypertension ( |
1 |
| Sepsis ( |
|
| clinical | 18 |
| proven | 2 |
| Intraventricular hemorrhage ( |
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.
| Normal ( |
16 |
| A46D (c.137C>A) het. ( |
1 |
| D1312G (c.3935A>G) het. ( |
1 |
| R117H (c.350G>A) het. ( |
1 |
| S1426P (c.4276T>C) het. ( |
1 |
Symptoms and signs of respiratory distress in the patient group.
| 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 |