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Primary ciliary dyskinesia 35(CILD35)

MedGen UID:
934688
•Concept ID:
C4310721
•
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): ODAD4 (17q21.2)
 
Monarch Initiative: MONDO:0014910
OMIM®: 617092

Definition

Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Situs inversus totalis
MedGen UID:
1642262
•Concept ID:
C4551493
•
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
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Abdominal situs ambiguus
MedGen UID:
1622585
•Concept ID:
C4531036
•
Anatomical Abnormality
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
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Bronchiectasis
MedGen UID:
14234
•Concept ID:
C0006267
•
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
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Productive cough
MedGen UID:
66781
•Concept ID:
C0239134
•
Finding
A cough that produces phlegm or mucus.
See: Feature record | Search on this feature
Recurrent pneumonia
MedGen UID:
195802
•Concept ID:
C0694550
•
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
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Decreased nasal nitric oxide
MedGen UID:
767344
•Concept ID:
C3554430
•
Finding
Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.
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Neonatal respiratory distress
MedGen UID:
924182
•Concept ID:
C4281993
•
Finding
Respiratory difficulty as newborn.
See: Feature record | Search on this feature
Chronic sinusitis
MedGen UID:
101751
•Concept ID:
C0149516
•
Disease or Syndrome
A chronic form of sinusitis.
See: Feature record | Search on this feature
Chronic otitis media
MedGen UID:
75751
•Concept ID:
C0271441
•
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
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Chronic rhinitis
MedGen UID:
3086
•Concept ID:
C0008711
•
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
See: Feature record | Search on this feature
Nasal polyposis
MedGen UID:
6524
•Concept ID:
C0027430
•
Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
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Term Hierarchy

Professional guidelines

PubMed

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C
Am J Respir Crit Care Med 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. PMID: 28199173Free PMC Article
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH
G3 (Bethesda) 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. PMID: 26139845Free PMC Article
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.
Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, Escribano A, Lucas JS, Yiallouros P, Omran H, Eber E, O'Callaghan C, Snijders D, Barbato A; ERS Task Force on Primary Ciliary Dyskinesia in Children
Eur Respir J 2010 Dec;36(6):1248-58. Epub 2010 Jun 7 doi: 10.1183/09031936.00001010. PMID: 20530032

Recent clinical studies

Etiology

Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.
Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ
Am J Rhinol Allergy 2021 Jan;35(1):72-76. Epub 2020 Jun 19 doi: 10.1177/1945892420933175. PMID: 32551925Free PMC Article
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503
Caregiver burden in children with cystic fibrosis and primary ciliary dyskinesia.
Keniş Coşkun Ö, Gençer Atalay K, Erdem E, Karadag-Saygi E, Gökdemir Y, Karadağ B
Pediatr Pulmonol 2019 Dec;54(12):1936-1940. Epub 2019 Aug 29 doi: 10.1002/ppul.24503. PMID: 31468736
A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.
Satırer O, Mete Yesil A, Emiralioglu N, Tugcu GD, Yalcın E, Dogru D, Kiper N, Ozcelik U
Respir Med 2018 Apr;137:35-39. Epub 2018 Feb 24 doi: 10.1016/j.rmed.2018.02.013. PMID: 29605210

Diagnosis

Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503
Movement.
Ferkol T
Paediatr Respir Rev 2017 Sep;24:19-20. Epub 2017 Jun 12 doi: 10.1016/j.prrv.2017.06.005. PMID: 28687245
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C
Am J Respir Crit Care Med 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. PMID: 28199173Free PMC Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Therapy

Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease.
Olivier KN, Shaw PA, Glaser TS, Bhattacharyya D, Fleshner M, Brewer CC, Zalewski CK, Folio LR, Siegelman JR, Shallom S, Park IK, Sampaio EP, Zelazny AM, Holland SM, Prevots DR
Ann Am Thorac Soc 2014 Jan;11(1):30-5. doi: 10.1513/AnnalsATS.201307-231OC. PMID: 24460437Free PMC Article
Respiratory medicines for children: current evidence, unlicensed use and research priorities.
Smyth AR, Barbato A, Beydon N, Bisgaard H, de Boeck K, Brand P, Bush A, Fauroux B, de Jongste J, Korppi M, O'Callaghan C, Pijnenburg M, Ratjen F, Southern K, Spencer D, Thomson A, Vyas H, Warris A, Merkus PJ
Eur Respir J 2010 Feb;35(2):247-65. Epub 2009 Oct 19 doi: 10.1183/09031936.00139508. PMID: 19840958
The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia.
Jorissen M, Willems T
Acta Otolaryngol 2004 May;124(4):527-31. doi: 10.1080/00016480410016270. PMID: 15224888

Prognosis

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S
J Hum Genet 2020 Nov;65(11):961-969. Epub 2020 Jun 18 doi: 10.1038/s10038-020-0790-2. PMID: 32555313
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Clinical prediction guides

Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.
Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ
Am J Rhinol Allergy 2021 Jan;35(1):72-76. Epub 2020 Jun 19 doi: 10.1177/1945892420933175. PMID: 32551925Free PMC Article
Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity.
Piatti G, Ambrosetti U, Robino A, Girotto G, Gasparini P
Int Arch Allergy Immunol 2020;181(9):727-731. Epub 2020 Jul 13 doi: 10.1159/000508938. PMID: 32659773
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Recent systematic reviews

Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article

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