Bronchiectasis 2012

Prof. Dr. Bülent KARADAĞ

Marmara Uni. Division of Paediatric

Pulmonology

Bronchiectasis, children

• 2305 articles

• 2013: 16

• 2012: 99

• Turkey: 71 ( 3) .

Childhood Pneumonectomies: Two Decades' Experience of a

Referral Center.

Yalcin S, Ciftci A, Karnak I, Ekinci S, Tanyel FC, Senocak M.

Eur J Pediatr Surg. 2012 Aug 17. .

Different features of lung involvement in Niemann-Pick disease

and Gaucher disease.

Gülhan B, Ozçelik U, Gürakan F, Güçer S, Orhan D, Cinel G,

Yalçin E, Ersöz DD, Kiper N, Yüce A, Kale G.

Respir Med. 2012 Sep;106(9):1278-85.

Surgical treatment of right middle lobe syndrome in children.

Sehitogullari A, Sayir F, Cobanoglu U, Bilici S.

Ann Thorac Med. 2012 Jan;7(1):8-11.

Bronchiectasis

1. PCD Diagnosis-Treatment2. PCD Genetics3. PCD LFT4. BE Diagnosis5. BE Etiology 6. BE Disease burden7. BE Surgery

6th February- Diamond Year of Queen Elisabeth

ERS Task Force26 countries, 194 centresPt per center : 4 (2-9)90% nasal/mucosal biopsy77% electron microscopy, 57% cilairy function testsNasal NO 46%, Saccharine 36%Variable management

Arab Spring-27th February

PCD Genetics

Exome sequencing for CCDC114 mutationsKnowles MR, Am J Hum Genet. 2013;10;92. Mutations causing PCD in 14 genes (60%)Sequence analysis in 6 probands on the ODA Chlamydomonas reinhardtii motility gene (DNAI2, DNAH5)

PCD Genetics

HEATR2 mutation Am J Hum Genet.

2012;91:685. Horani A

Amish community

OR, previously undefined

İmmunohistochemistry: HEATR2 in

cytoplasm, not in cilia.

Its role in the dynein arm transport?

PCD Genetics

Mata M, Am J Rhinol Allergy 2012;26:260.

Adenylate kinase 7 (AK7) mutation.

Mutations described in 5 genes.

Gene causing PCD?

Lower levels of AK7 gene expression

2 mutations described in AK7 gene

CCDC114 = ODA microtubule-docking complex

CCDC39,40 genes are related to IDA defects and

axonemal irregularity

Biallelic CCDC39 or

CCDC40 mutations

Patients with IDA defect

30/34 (%88.2)

Normal ciliary structure and lower levels of NOand PCD symptoms (DNAH11).163 ptsNormal structure=5823 indefinitive (17 situs inversus or BE, 6 lowNO) 13 pts with situs inversus… DNAH11 58pts with PCD 22% DNAH11

Munch- Scream (120 million

euro)

2nd May 2012

Shoemark A, J Clin Pathol

2012;65:267

20 years, 1182 pts

242 (20%) PCD

33 pts.. normal (3%)

Electron microscopy does not exclude the diagnosis!

ı

URT complicationsURT Sequelae follow-up ?OM with effusion and hearing loss do not recover after 9 years of age.Treatment increasing the mucociliary clearence ?

Spirometry or Plethysmography?

P. aeruginosa inf. 40% , BE 88 %

P. aeruginosa and BE (p=0.009; r=0.367) and air

trapping (p=0.03; r=0.315)

P. aeruginosa and RV >150% (p=0.04) and RV/TLC

>140% (p=0.001)

No correlation with P. aeruginosa infection and LFT

HRCT and RV (p=0.003; r=0.423), RV/TLC

(p<0.001; r =0.513)

Plethysmography >spirometry,

Spirometry ve progression of lung disease

20 pts comparison with HRCT (11.6 years)

<15 years,At least 8 years follow-up, 20 pts LFT worsens with ageCT scores increases with age, and inversely related with PaO2, FVC, FEV1,and FEF2575%.

2012 Summer Olympics

Multipl breath inert gas washout (MBW) test- Lung clearance index (LCI) reflects changes better.

LCI: PCD %85 abnormal Normal FEV1 %81 abnormalLCI is better correlated with other LFT parameters.

MR vs. HRCT

Swallowing and Endoscopy

66% BE (51% <2 yrs)

Severe norological sequelae (OR 9.45, P<0.004)

History of GER (OR 3.36, P=0.036)

77 (%68) +’ve BAL culture

49.5% Infection

%63 >1 pathogen

Age of diagnosis is important.

BE Infection

Hare KM, Int J Antimicrob Agents. 2012;40:365.

Long-term effects of antibiotics on nasopharyngeal

carrier status ?

AZT and β-lactam ab, 104 pts

Makrolide …Nazopharyngeal carrier status

decreases OR=0.2, (0.1-0.6)

β-lactam..OR=0.1, (0.1-0.3)

No effect on LRTI!

Rate of AB resistant m.o. increases !

BE Infection

Hare KM, Int J Antimicrob Agents. 2012; 40:365.

Makrolide:

Resistant S.pneumonia carrier: OR=4.5 (1.1-21.7)

Infection: OR=8.1, (1.4-81.3)

β-lactam ab:

Resistant H.influenza infection:OR=4.4 (0.8-23.9)

Long-term risks ?

Neutrophilia in BAL is correlated with culture but not

with PCR

BE Disease Burden

Kapur N, Chest 2012 Apr;141:1018-24.

Disease burden ?

QoL ve parental mental health and the effects of

exacerbations

Parent-proxy cough-specific quality of life [PC-QOL]

Depression, Anxiety, and Stress Scale [DASS])

BE Disease burden

Kapur N, Chest 2012 Apr;141:1018-24.

Stable state:

PC-QOL score:6.5 (5.3-6.9)

DASS 21 score: 6 (0-20).

Smaller age= worse QOL (P = .04)

Worsens with exacerbation

BE Disease Burden

Kapur N, Chest 2012 Apr;141:1018-24.

PC-QOL score (4.6 [3.8-5.4]; p= .001)

DASS score ( 22 [9-42]; P < .001)

Anxiety 38%, abnormal depression/stress 54%

Especially significant during exacerbations.

Prevention of BE, early diagnosis and treatment of

exacerbation may decrease the psychological

morbidity.

Whitney Houston (1963-2012)

Dave Brubeck, Ravi Shankar (1920-2012)

1.AO requiring intervention (2%)

2.BAL eosinophilia >%2.5, (34%)

3.BAL culture >104 CFU/ml (9%)

Required intervention in 23 pts.

Not only in localised BE, but for all on admission !

BE Definit,on of exacerbation

Wet cough and severe cough score in the last 3 days

are the best predictors.

Color of sputum, chest pain, dyspnea, haemoptysis

Adding CRP, amiloid-A and IL6 increases the specificity

and PPV.