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Table 2 Demographic and clinical characteristics according to genotype in patients with cystic fibrosis*

From: Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry

 

High risk Genotype

Low risk Genotype

Total (n = 182)

p-value

(p ≤ 0.05)

No. patients/No. studied (%)

Demographics characteristics

Male sex

64/122 (52.5)

35/60 (58.3)

99/182 (54.4)

0.454

Age (years)a. Median (25–75)b

15.0 (7.0–28.0)

28.5 (11.8–42.0)

19.0 (8.0–33.0)

 < 0.001

Age at diagnosis < 18 years

114/117 (97.4)

40/60 (66.7)

154/177 (87.0)

 < 0.001

Death

30/122 (24.6)

2/60 (3.3)

32/182 (17.6)

 < 0.001

Lung or liver transplant

19/122 (15.6)

4/60 (6.7)

23/182 (12.6)

0.089

Clinical characteristics

Respiratory manifestations

FEV1 as % predictedc. Mean ± SDd

87.1 ± 20.5 (57)

94.1 ± 22.2 (40)

90.0 ± 21.4 (97)

0.045

Nasal polyposis

18/87 (20.7)

14/51 (27.5)

32/138 (23.2)

0.364

Haemoptysis

18/87 (20.7)

12/51 (23.5)

30/138 (21.7)

0.696

ABPAe

11/87 (12.5)

4/51 (7.8)

15/138 (10.9)

0.572

Infection byf

    

Staphylococcus aureus

55/87 (63.2)

24/50 (48.0)

79/137 (57.7)

0.044

MRSA

10/87 (11.5)

0/50 (0.0)

10/137 (7.3)

0.013

Pseudomonas aeruginosa

31/88 (35.2)

12/51 (23.5)

43/139 (30.9)

0.150

Achromobacter xylosoxidans

14/87 (16.1)

2/50 (4.0)

16/137 (11.7)

0.034

Burkholderia cepacia

1/87 (1.1)

1/50 (2.0)

2/137 (1.5)

0.689

Non-tuberculous mycobacteria

6/87 (7.1)

3/50 (6.0)

9/137 (6.6)

0.838

Gastrointestinal manifestations

Meconium ileus

17/102 (16.7)

0/59 (0.0)

17/161 (10.6)

0.001

Pancreatic insufficiency

91/102 (89.2)

18/59 (30.5)

109/161 (67.7)

 < 0.001

Pancreatitisg

4/87 (4.6)

4/51 (7.8)

8/138 (5.8)

0.467

Liver diseaseh

15/89 (16.9)

1/52 (1.9)

16/141 (11.3)

0.007

Rectal prolapse

4/87 (4.6)

0/51 (0.0)

4/138 (2.9)

0.296

Intussusception

3/88 (3.4)

0/51 (0.0)

3/139 (2.2)

0.298

DIOSi

8/87 (9.2)

2/51 (3.9)

10/138 (7.2)

0.323

Metabolic disturbances

CF-related diabetes

14/88 (15.9)

1/52 (1.9)

15/140 (10.7)

0.010

Clinically significant dehydration

14/87 (16.1)

9/51 (17.6)

23/138 (16.7)

0.817

Bone alterationsj

11/87 (12.6)

4/52 (7.7)

15/139 (10.8)

0.413

  1. *Manifestations that have been present at some point in the patient's life through December 31, 2018. The genotype information of ten patients is unknown
  2. aAge on December 31st, 2018
  3. b25-75 = 25th–75th percentile
  4. cForced Expiratory Volume in the first second (Percentage of predicted value). The best value of the year 2018 was measured
  5. dSD = Standard deviation
  6. eABPA = Allergic Bronchopulmonary Aspergillosis
  7. fIt includes chronic colonization by Staphylococcus aureus, Pseudomonas aeruginosa and Burkholderia cepacia, and some acute infection by methicillin-resistant Staphylococcus aureus (MRSA), Achromobacter xylosoxidans and non-tuberculous mycobacteria
  8. gRecurrent acute or chronic pancreatitis
  9. hCirrhosis or liver disease without cirrhosis, including fatty liver
  10. iDIOS = Distal Intestinal Obstruction Syndrome
  11. jIt includes low bone density, osteoporosis and a digital arthropathy
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172