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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

12

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.