1 retrospective evaluation of the patients with cystic fibrosis dr.lale pulat seren zeynep kamİl...
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RETROSPECTIVE RETROSPECTIVE EVALUATION OF THE EVALUATION OF THE
PATIENTS WITH CYSTIC PATIENTS WITH CYSTIC FIBROSISFIBROSIS
DR.LALE PULAT SERENDR.LALE PULAT SEREN
ZEYNEP KAMİL MATERNITY AND ZEYNEP KAMİL MATERNITY AND CHILDREN’S TRAINING AND RESEARCH CHILDREN’S TRAINING AND RESEARCH
HOSPITALHOSPITAL
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CYSTIC FIBROSISCYSTIC FIBROSIS The most common life-limiting inherited The most common life-limiting inherited
disorderdisorder Autosomal recessive genetic traitAutosomal recessive genetic trait Mutation of CF transmembrane regulator Mutation of CF transmembrane regulator
(CFTR) gene(CFTR) gene The most prevalent one among 1340 The most prevalent one among 1340
different mutations of CFTR is ΔF508different mutations of CFTR is ΔF508 Variable involvement of the lungs, Variable involvement of the lungs,
pancreas, intestinal tract, liver and sweat pancreas, intestinal tract, liver and sweat glands are presented. glands are presented.
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Chronic sinopulmonary diseaseChronic sinopulmonary disease Chronic cough and sputumChronic cough and sputum WheezingWheezing Nasal polypNasal polyp Digital clubbingDigital clubbing
Gastrointestinal abnormalitiesGastrointestinal abnormalities Intestinal-Diarrhea,obstructionIntestinal-Diarrhea,obstruction Liver - Chronic liver disease, cirrhosisLiver - Chronic liver disease, cirrhosis Nutrition – growth retardationNutrition – growth retardation
●●Male genitourinary abnormalitiesMale genitourinary abnormalities InfertilityInfertility
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CFCF
Incidence Incidence
1 / 2500 – 3500 in whites1 / 2500 – 3500 in whites
1 / 2000 – 4000 in Turkish 1 / 2000 – 4000 in Turkish populationpopulation
(Gürson et al., 1973)(Gürson et al., 1973)
1000 –1500 patients are estimated to be 1000 –1500 patients are estimated to be followed up for CF in Turkey.followed up for CF in Turkey.
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Material and MethodsMaterial and Methods
23 CF patients followed between 1998-23 CF patients followed between 1998-2003 were evaluated retrospectively2003 were evaluated retrospectively
Diagnosis was confirmed at least two Diagnosis was confirmed at least two sweat test positivity (Cl > 60mEq/L)sweat test positivity (Cl > 60mEq/L)
Pilocarpine iontophoresis was used for Pilocarpine iontophoresis was used for sweat testing.sweat testing.
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Material and MethodsMaterial and Methods
10 female ( 43,4 %), 13 male (56,6 10 female ( 43,4 %), 13 male (56,6 %)%)
( 23 patients )( 23 patients )
● ● 2 patients were died 2 patients were died (1 from hypovolemic shock due to (1 from hypovolemic shock due to
gastroenteritis and 1 from gastroenteritis and 1 from cardiopulmonary insufficiency due to cardiopulmonary insufficiency due to lung disease)lung disease)
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ResultsResults
Age range of the patientsAge range of the patients
45 days – 11 months45 days – 11 months
( median 5,5 months )( median 5,5 months )
Median age at the time of Median age at the time of diagnosisdiagnosis
2,5 months -12 months2,5 months -12 months
( median 6,4 months )( median 6,4 months )
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ResultsResults
AGEAGE nn %%
0 – 3 months0 – 3 months 66 2626
4 – 6 months4 – 6 months 1010 43,543,5
7 – 9 months7 – 9 months 33 1313
10 – 12 10 – 12 monthsmonths
44 17,517,5
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ResultsResults
Consangineous marriageConsangineous marriage
66,2 % ( n = 15 )66,2 % ( n = 15 )
History of death siblingHistory of death sibling
21,7 % ( n = 5 )21,7 % ( n = 5 )
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ResultsResults
The most common causes of The most common causes of hospitalization;hospitalization;
- Recurrent pulmonary infection- Recurrent pulmonary infection
- Gastroenteritis- Gastroenteritis
- Growth retardation- Growth retardation
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SymptomsSymptoms nn %%
Weight loss or Weight loss or decreased weight gain decreased weight gain
2020 8686
CoughCough 1717 7474
DiarrheaDiarrhea 1111 4747
VomitingVomiting 1111 4747
WheezingWheezing 99 3939
CyanosisCyanosis 22 8,68,6
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0
10
20
30
40
50
60
70
80
90failure to thrive 86 %
dyspnea 42 %
rales 39 %
wheezing 39 %
digital clubbing 9 %
hydrocephalus 5 %
Clinical Manifestations of the Patients
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Radiological Results of the Radiological Results of the PatientsPatients
5%5%
17%
17%
56%
PneumonicinfiltrationHyperaeration
Normal
Atelectasis
Bronchiectasis
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Laboratory Laboratory FindingsFindings
nn %%
HyponatremiaHyponatremia 1616 6969
HypochloremiaHypochloremia 1313 5656
HypokalemiaHypokalemia 1212 5252
Metabolic alkalosisMetabolic alkalosis 1313 5656
HypoalbuminemiaHypoalbuminemia 1010 4343
AnemiaAnemia 55 2121
HypocalcemiaHypocalcemia 11 4,34,3
HyperreninemiaHyperreninemia 11 4,34,3
HyperaldosteronisHyperaldosteronismm
11 4,34,3
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Sweat chloride Sweat chloride values (mEq/L)values (mEq/L)
nn %%
60 – 8060 – 80 77 3030
81 – 10081 – 100 88 3434
101 and above101 and above 88 3434
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Nasopharyngeal aspirate cultures were Nasopharyngeal aspirate cultures were available in 10 patients and the available in 10 patients and the identified bacterias were;identified bacterias were;
S. aureus 2 casesS. aureus 2 cases P. aeruginosa 2 casesP. aeruginosa 2 cases H. influenza 1 caseH. influenza 1 case
□□ Klebsiella sp. were grown in Klebsiella sp. were grown in hemocultures of 2 patients. hemocultures of 2 patients.
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The diagnosis of CF is generally made in the The diagnosis of CF is generally made in the first year of life.first year of life.
Abnormalities in the electrolyte content of Abnormalities in the electrolyte content of sweat is presented from birth to death.sweat is presented from birth to death.
More than 60 mEq/L of chloride in sweat is More than 60 mEq/L of chloride in sweat is pathologic and diagnostic for CF but threshold pathologic and diagnostic for CF but threshold levels of 40 mEq/L for infants (esp. younger levels of 40 mEq/L for infants (esp. younger than 3 months) have been suggested.than 3 months) have been suggested.
Beauchamp M. et al. Sweat Testing. Pediatr Pulmonol 2005;39:507-Beauchamp M. et al. Sweat Testing. Pediatr Pulmonol 2005;39:507-1111
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Mutational heterogeneity and Mutational heterogeneity and environmental factors appear responsible environmental factors appear responsible for highly variable organ involvement.for highly variable organ involvement.
Involvement of the respiratory tract is Involvement of the respiratory tract is responsible 90 % of morbidity and responsible 90 % of morbidity and mortality.mortality.
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Respiratory Respiratory systemsystem
GISGIS ConsangineoConsangineous marriageus marriage
Karakoç et Karakoç et alal20022002
90 %90 % 83 %83 % 39 %39 %
Göçmen et Göçmen et al.al.19981998
87 %87 % 70 %70 % --
Our StudyOur Study 82 %82 % 50 %50 % 66 %66 %
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The most common sign of GIS is The most common sign of GIS is exocrine pancreatic insufficiency exocrine pancreatic insufficiency related steatorrhearelated steatorrhea..
Malabsorbtion of fats and proteins Malabsorbtion of fats and proteins are predominatedare predominated..
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Respiratory Respiratory systemsystem
GISGIS ConsangineoConsangineous marriageus marriage
Karakoç et Karakoç et alal20022002
90 %90 % 83 %83 % 39 %39 %
Göçmen et Göçmen et al.al.19981998
87 %87 % 70 %70 % --
Our StudyOur Study 82 %82 % 50 %50 % 66 %66 %
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Our StudyOur Study
Gastroesophageal Gastroesophageal refluxreflux
5 %5 %
Iron deficiency Iron deficiency anemiaanemia
21 %21 %
Failure to thriveFailure to thrive 86 %86 %
Pseudo-Bartter Pseudo-Bartter SyndromeSyndrome
5 %5 %
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CF patients required a multidisciplinary treatment CF patients required a multidisciplinary treatment protocol.protocol.
Chest physical therapy is the most important part Chest physical therapy is the most important part of the treatment.of the treatment.
Inhaled hypertonic saline, N-acetylcysteine and Inhaled hypertonic saline, N-acetylcysteine and DNase are used for the removal of viscouse DNase are used for the removal of viscouse secretions.secretions.
Culture appropiate antibiotics have to be choosen Culture appropiate antibiotics have to be choosen for acute exacerbations of chronic lung disease.for acute exacerbations of chronic lung disease.
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Inhaled B2 agonists; % 82
Inhaled CS; % 82
Pancreas enzymes; % 50
UDCA; % 17
chest physical therapy %82
multivitamin % 86
Treatment methods administrated to our patients
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ConclusionConclusion
Life quality in CF has been progressively Life quality in CF has been progressively increased with early diagnosis and increased with early diagnosis and modern treatment methods, in recent modern treatment methods, in recent years.years.
Since, consangineous marriages are Since, consangineous marriages are common in our country, to form a common in our country, to form a standart national work-up programme is standart national work-up programme is required.required.