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Table 6 Predisposing genetic factors in CF positive cases in a cohort of Ecuadorian children attending the HECAM hospital

From: Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Patient ID

Mutation

State

Age group

Z Score (mean)

Sweat test (mean)

Prevalent bacteria

Fev1 (mean)

FVC (mean)

Fev1% (mean)

Hospital Admissions

Inpatient days

All population

Tables 4 and 5

9,2 (mean)

-0,62

96,78

Table 3

90,45

98,78

87,73

2,5 (mean)

18 (mean)

3

H609R

Heterozygous

5 to 10 years

1

120

Staphylococcus aureus oxacillin resistant

105,22

104,42

99,38

–

–

c.204099A > C

Homozygous

10

c.19395G > A

Homozygous

10 to 15 years

−3,15

110,5

Staphylococcus aureus oxacillin susceptible

91,52

96,45

93,45

–

–

M470V

Homozygous

H609R

Homozygous

c.204099A > C

Homozygous

14

F508del

Heterozygous

10 to 15 years

−1,18

118

Staphylococcus aureus oxacillin resistant

67,45

73,35

78,13

3

18

W1098X

Heterozygous

c.204099A > C

Homozygous

c.206359C > A

Homozygous

c.43555G > C

Heterozygous

c.43592 T > C

Heterozygous

c.869 + 11C > T

Heterozygous

17

T854T

Homozygous

Less than 5 years

0,26

87

Staphylococcus aureus oxacillin resistant

Patient less than 5 years

–

–

c.204099A > C

Homozygous

R170H

Heterozygous

G330E

Homozygous

Q1463Q

Heterozygous

25

c. 43580G > T

Heterozygous

10 to 15 years

0,05

86

Staphylococcus aureus oxacillin resistant

93,15

102,58

89,3

1

21

c.204099A > C

Homozygous

G85E

Heterozygous

H609R

Heterozygous

M470V

Homozygous

c.206359C > A

Homozygous

c.43583A > G

Heterozygous

c.43594A > G

Homozygous

c.74629 T > C

Heterozygous

41

c.143018G > T

Heterozygous

5 to 10 years

−0,54

83,5

 

93,9

92,56

100,8

–

–

c.204099A > C

Homozygous

Moraxella spp

c.206359C > A

Homozygous

Haemophilus spp

M470V

Homozygous

 

G970S

Heterozygous

 

45

c.19395G > A

Homozygous

10 to 15 years

−2,16

67

Staphylococcus aureus oxacillin susceptible

72,28

88,58

82,93

–

–

c.74534G > C

Heterozygous

P1290P

Heterozygous

M470V

Heterozygous

Q1463Q

Heterozygous

46

c.204099A > C

Homozygous

Less than 5 years

0,33

84,5

Haemophilus spp

Patient less than 5 years

–

–

c.206359C > A

Homozygous

Moraxella spp

M470V

Heterozygous

 
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BMC Pediatrics

ISSN: 1471-2431

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