Lung Disorders

Question 1

Alpha 1 antitryp deficiency pathogenesis?
How does Pi type relate to alpha 1 AT function?
What %of population are alpha 1 A deficiency heterozygote state?

Answer 1

Homozygous def of alpha 1 antitrypsin: lack of inactivation of proteolytic enzymes (leukocyte esterase) from bacteria or leukocytes in the lung.

Pi typing = protease inhibitor typing - assesses the variant of alpha 1 AT inherited.
Normal and most common: PiMM
PiSS 50% function
PiZZ 10%
Pi null no function
Heterozygous States (MS or MZ) 5 to 14% of the population

Question 2

Define Loeffler’s syndrome

Answer 2

Widespread transitory lung infiltrates with eosinophilia. Allergy to meds or helminiths.

Question 3

What % of PCD patients have Kartegeners? What are the 3 key features of Kartegeners?

Answer 3

50%.

Situs inversus, chronic sinusitis and OM, bronchiectasis.

Question 4

Tracheo oesoph fistula
?most common types
? Incidence and risk factors

Answer 4

Most common blind ending proximal oesoph with distal TOF (87%)
8% oesoph blind Prox and distal
4% H type

1 in 4000
Risk increased with maternal age, smoking, European, LSES, obesity
>90%survival
50% non syndromic
VACTERL, CHARGE, Feingold