Hi!
Kartagener syndrome (primary ciliary dysfunction, aka immotile cilia syndrome) mnemonic :-
K - Kartagener
AR - Autosomal Recessive
T - Transport defect (intracellular vesicle)
A - Axonemal dynein gene mutation (DNAI1 and DNAH5 in majority)
R - Rare disease
SYN - Situs INversus
D - Dextrocardia on CXR
R - Recurrent respiratory infections (bronchiectasis, rhinosinusitis)
OM - Otitis Media
E - Ectopic pregnancy (high risk, infertility)
Note: screening test for PCD - decreased nasal nitric oxide levels.
That's all
- Jaskunwar Singh
Thank you! This helps me so much!
ReplyDelete