Cystic Fibrosis
Conditions
Keywords
Cystic Fibrosis, Haptoglobin
Brief summary
Cystic Fibrosis is a genetic disease with variable severity, and a predisposition for lung infection. Usually severity is determined by the class of CF mutations, but even among patients with the same severity of mutations there is a variation of the severity of CF. Haptoglobin has several types (phenotypes), one of them was found to be related to infectious complications. In this study the investigators aim to find a correlation between Haptoglobin phenotypes in patients with CF and frequency of infectious complications. To this end the investigators will collect serum from CF patients, and determine their Haptoglobin protein phenotype. The investigators will correlate Haptoglobin phenotype to retrospectively gathered data on infectious complications.
Detailed description
Cystic Fibrosis is a genetic disease with variable severity, and a predisposition for lung infection. The severity of the disease is determined by genetic factors (type of mutation), environmental factors (exposure to bacteria) and behavioral (adherence with therapy). Even among patients with the same severity of mutations there is a variation of the severity of CF. Haptoglobin is a protein responsible for collecting Iron from senescent Red Blood Cells. There are two genes of Haptoglobin, numbered 1 and 2, and combinations between the two genes create three forms of proteins: 1-1, 1-2, and 2-2. The 1-1 Phenotype was found to be associated with a predisposition to infection. In this study the investigators aim to find a correlation between Haptoglobin phenotypes in patients with CF and frequency of infectious complications. To this end the investigators will collect serum from CF patients, and determine their Haptoglobin protein phenotype by gel- electrophoresis. The investigators will correlate Haptoglobin phenotype to retrospectively gathered data on infectious complications. FEV1- Forced Expiratory Volume in 1 second.
Interventions
OTHERno intervention
Sponsors
Carmel Medical Center
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 60 Years
Healthy volunteers
No
Inclusion criteria
Patients diagnosed with CF according to diagnostic criteria , between the ages of 0 and 50, who are themselves, or their parents or guardians, able to give informed consent. Two known severe (class I , II and III) mutations
Exclusion criteria
none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| FEV1 | best in last 6 months | Lung function as determined by spirometry FEV1 (% expected), normalized by age |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Presence of CF related diabetes | five years | presence of CF related diabetes and HbA1C for diabetic patients. |
| Colonization with bacteria | one year | colonization of the following bacteria: Pseudomonas aeruginosa (mucoid and non mucoid), Staph aureus (MSSA and MRSA), Hemophilus influenza, Burkholderia Cepacia complex |
| Number Hospitalizations per year | one year | events of hospitalization |
| Number of antibiotic courses per year of follow up | one year | number of courses of antibiotics the patient received in the last year |
| Number of days with antibiotics per year of follow up | one year | number of days the patient received antibiotics |
Other
| Measure | Time frame | Description |
|---|---|---|
| Haptoglobin phenotype | one visit | Haptoglobin phenotype in serum will be determined by gel electrophoresis |
Countries
Israel
Outcome results
None listed