No | Gender/Age/Family | nNO | HSVMA | Genetics (Mutation) | Clinical Picture | PICADAR |
---|---|---|---|---|---|---|
1 | Female/ 10 years Family 1 | 73.9–98 ppb | Almost static, minimal, residual movement or vibration of cilia tips. | DNAH11: HET c.2341G > A p. (Glu781Lys) and HET c.7645 + 5G > A | perinatal onset of rhinorrhea, recurrent otitis media, wet cough, blocked nose, rhinosinusitis, asthma bronchiale, situs inversus | 10/14 |
2 | Male/ 16 years Family 1 | 301 ppb | Slow, stiff and uncoordinated movement, low bending capacity | DNAH11: HET c.2341G > A p. (Glu781Lys) and HET c.7645 + 5G > A | school-age onset with recurrent rhinosinusitis and chronic wet cough | 3/14 |
3 | Female/ 6 years Family 2 | 45.8 ppb | Minimal, residual ciliary movement | DNAH11: HOM c.2341G > A p. (Glu781Lys) | early onset and persistent wet cough, perineal rhinitis, recurrent otitis media, obstructive bronchitis, atopic dermatitis, egg allergy, allergic asthma bronchiale | 4/14 |
4 | Female/ 4 years Family 2 | – | Hyperkinetic, ineffective movement | DNAH11: HOM c.2341G > A p. (Glu781Lys) | early onset recurrent otitis media, wet cough, situs inversus | 10/14 |
5 | Female/ 3 years Family 2 | – | Minimal, residual ciliary movement | DNAH11: HOM c.2341G > A p. (Glu781Lys) | neonatal onset of rhinorrhea, slimy and persistent wet cough and recurrent otitis media | 6/14 |