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Ciliary dyskinesia, primary, 43(CILD43)

MedGen UID:
1684675
•Concept ID:
C5231466
•
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 43, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): FOXJ1 (17q25.1)
 
Monarch Initiative: MONDO:0032874
OMIM®: 618699

Definition

Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). [from OMIM]

Clinical features

From HPO
Abdominal situs inversus
MedGen UID:
52359
•Concept ID:
C0037221
•
Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.
See: Feature record | Search on this feature
Noncommunicating hydrocephalus
MedGen UID:
108198
•Concept ID:
C0549423
•
Disease or Syndrome
A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Productive cough
MedGen UID:
66781
•Concept ID:
C0239134
•
Finding
A cough that produces phlegm or mucus.
See: Feature record | Search on this feature
Recurrent upper respiratory tract infections
MedGen UID:
154380
•Concept ID:
C0581381
•
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
See: Feature record | Search on this feature
Recurrent lower respiratory tract infections
MedGen UID:
756211
•Concept ID:
C3163798
•
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
See: Feature record | Search on this feature
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 rhinitis
MedGen UID:
3086
•Concept ID:
C0008711
•
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Comparison of mental health in individuals with primary ciliary dyskinesia, cystic fibrosis, and parent caregivers.
Graziano S, Ullmann N, Rusciano R, Allegorico A, Boldrini F, Rosito L, Quittner AL, Cutrera R, Tabarini P
Respir Med 2023 Feb;207:107095. Epub 2022 Dec 23 doi: 10.1016/j.rmed.2022.107095. PMID: 36572068
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article
Primary ciliary dyskinesia: diagnostic and phenotypic features.
Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR
Am J Respir Crit Care Med 2004 Feb 15;169(4):459-67. Epub 2003 Dec 4 doi: 10.1164/rccm.200303-365OC. PMID: 14656747

Recent clinical studies

Etiology

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study.
Marro M, Leiva-Juárez MM, D'Ovidio F, Chan J, Van Raemdonck D, Ceulemans LJ, Moreno P, Kindelan AA, Krueger T, Koutsokera A, Ehrsam JP, Inci I, Yazicioglu A, Yekeler E, Boffini M, Brioude G, Thomas PA, Pizanis N, Aigner C, Schiavon M, Rea F, Anile M, Venuta F, Keshavjee S
Transpl Int 2023;36:10819. Epub 2023 Feb 14 doi: 10.3389/ti.2023.10819. PMID: 36865666Free PMC Article
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
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG; Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):89-101. Epub 2022 Mar 27 doi: 10.1002/ajmg.c.31968. PMID: 35343062Free PMC Article
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479

Diagnosis

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG; Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):89-101. Epub 2022 Mar 27 doi: 10.1002/ajmg.c.31968. PMID: 35343062Free PMC Article
Diagnosis of Primary Ciliary Dyskinesia.
Goutaki M, Shoemark A
Clin Chest Med 2022 Mar;43(1):127-140. doi: 10.1016/j.ccm.2021.11.008. PMID: 35236553
Recent advances in primary ciliary dyskinesia.
Takeuchi K, Kitano M, Ishinaga H, Kobayashi M, Ogawa S, Nakatani K, Masuda S, Nagao M, Fujisawa T
Auris Nasus Larynx 2016 Jun;43(3):229-36. Epub 2015 Oct 31 doi: 10.1016/j.anl.2015.09.012. PMID: 26527516
Mini-symposium: primary ciliary dyskinesia.
Fauroux B, Bush A
Paediatr Respir Rev 2009 Jun;10(2):43. Epub 2009 Apr 16 doi: 10.1016/j.prrv.2008.11.002. PMID: 19410199

Therapy

Airway Clearance Techniques in Primary Ciliary Dyskinesia: A Systematic Review.
Qian L, Lam B, Zheng T, Russo D, Ma J, Yao X
P R Health Sci J 2024 Sep;43(3):119-124. PMID: 39269762
Exploring factors associated with acquisition and chronicity of infection in bronchiectasis: A population-based study.
Shkeiri R, Saliba W, Stein N, Najjar R, Weber G, Dror SK, Mishan PS, Adir Y, Shteinberg M
Respir Med 2021 Aug-Sep;185:106487. Epub 2021 Jun 8 doi: 10.1016/j.rmed.2021.106487. PMID: 34139580
Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers.
Crowley S, Holgersen MG, Nielsen KG
Chron Respir Dis 2019 Jan-Dec;16:1479972318787919. Epub 2018 Jul 18 doi: 10.1177/1479972318787919. PMID: 30021461Free PMC Article
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.
Zahid M, Bais A, Tian X, Devine W, Lee DM, Yau C, Sonnenberg D, Beerman L, Khalifa O, Lo CW
PLoS One 2018;13(2):e0191605. Epub 2018 Feb 14 doi: 10.1371/journal.pone.0191605. PMID: 29444099Free PMC Article
Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia.
Noone PG, Bennett WD, Regnis JA, Zeman KL, Carson JL, King M, Boucher RC, Knowles MR
Am J Respir Crit Care Med 1999 Jul;160(1):144-9. doi: 10.1164/ajrccm.160.1.9806146. PMID: 10390392

Prognosis

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
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
Diagnosis of Primary Ciliary Dyskinesia.
Goutaki M, Shoemark A
Clin Chest Med 2022 Mar;43(1):127-140. doi: 10.1016/j.ccm.2021.11.008. PMID: 35236553
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Clinical prediction guides

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
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
Diagnosis of Primary Ciliary Dyskinesia.
Goutaki M, Shoemark A
Clin Chest Med 2022 Mar;43(1):127-140. doi: 10.1016/j.ccm.2021.11.008. PMID: 35236553
Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia.
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K
Auris Nasus Larynx 2022 Apr;49(2):248-257. Epub 2021 Aug 26 doi: 10.1016/j.anl.2021.08.003. PMID: 34454779
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479

Recent systematic reviews

Airway Clearance Techniques in Primary Ciliary Dyskinesia: A Systematic Review.
Qian L, Lam B, Zheng T, Russo D, Ma J, Yao X
P R Health Sci J 2024 Sep;43(3):119-124. PMID: 39269762

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