Ciliary dyskinesia

From Dog
Electron micrograph of nasal epithelium, cilia defects characterized by absence of outer and inner dynein arms, disorganization of peripheral doublets, central doubles and supernumerary singles (arrows)[1]

Primary ciliary dyskinesia is an autosomal-recessive congenital disease of dogs characterized by abnormal respiratory epithelial development resulting in dysplastic or immotile cilia.

This disease has been reported in the Old English Sheepdog[2], Dachshund[3], Staffordshire Bull Terrier[4], English Springer Spaniel[5], Newfoundland[6], Bichon Frise and Doberman[7].

The genetic defect results in motility defects in the respiratory cilia that are responsible for airway clearance, as well as the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry.

The most prominent primary defects consist of absent inner dyneim arms, absent radial spokes and absence of the central microtubules.

This disease commonly appears in conjunction with a number of other diseases such as situs inversus (Kartagener syndrome)[8][9], subaortic stenosis[10] and hydrocephalus[11].

Clinically affected pups are usually young when first symptoms appear, which included poor weight gain, coughing, nasal discharge, wheezing, fever, otitis externa, otitis media, chronic rhinitis and bronchopneumonia[12].

Radiographic and CT/MRI imaging may reveal varying degrees of hypoplastic nasal sinuses and atresia of the frontal sinuses, secondary bronchiectasis and a secretory otitis media from ciliary dysfunction in the middle ear (manifested in some dogs by sclerotic tympanic bullae)[13].

Semen samples from dogs may show high percentage of spermatozoa with abnormal tails and poor progressive motility[14].

Diagnosis is difficult without bronchoscopic visualization of respiratory epithelium.

A definitive diagnosis requires histopathological examination of respiratory epithelium.

References

  1. University of Minnesota
  2. Merveille AC et al (2011) CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43(1):72-78
  3. Neil JA et al (2002) Kartagener's syndrome in a Dachshund dog. J Am Anim Hosp Assoc 38(1):45-49
  4. De Scally M et al (2004) Primary ciliary dyskinesia in a Staffordshire bull terrier. J S Afr Vet Assoc 75(3):150-152
  5. Edwards DF et al (1989) Familial immotile-cilia-syndrome in English springer spaniel dogs. Am J Med Genet 33:290–298
  6. Watson PJ et al (1999) Primary ciliary dyskinesia in Newfoundland dogs. Vet Rec 144(26):718-725
  7. LIDA
  8. Cavrenne R et al (2008) Primary ciliary dyskinesia and situs inversus in a young dog. Vet Rec 163(2):54-55
  9. Piantedosi D et al (2011) Situs inversus totalis associated with subaortic stenosis, restrictive ventricular septal defect, and tricuspid dysplasia in an adult dog. Can Vet J 52(11):1237-1242
  10. Reichler IM et al (2001) Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. J Small Anim Pract 42(7):345-348
  11. Daniel GB et al (1995) Communicating hydrocephalus in dogs with congenital ciliary dysfunction. Dev Neurosci 17(4):230-235
  12. Clercx C et al (2000) Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. J Am Vet Med Assoc 217(11):1681-1685
  13. Edwards DF et al (1992) Primary ciliary dyskinesia in the dog. Probl Vet Med 4(2):291-319
  14. Watson PJ et al (1998) Primary ciliary dyskinesia in Newfoundland dogs. Vet Rec 143(17):484