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Ciliary dyskinesia, primary, 45(CILD45)

MedGen UID:
1714988
•Concept ID:
C5394104
•
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS
 
Gene (location): TTC12 (11q23.2)
 
Monarch Initiative: MONDO:0032924
OMIM®: 618801

Definition

Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by Thomas et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
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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.
See: Feature record | Search on this feature
Immotile cilia
MedGen UID:
383738
•Concept ID:
C1855672
•
Finding
See: Feature record | Search on this feature
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Absent inner and outer dynein arms
MedGen UID:
868587
•Concept ID:
C4022986
•
Finding
Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
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

Respiratory Aspects of Primary Ciliary Dyskinesia.
De Jesús-Rojas W, Shapiro AJ, Shoemark A
Clin Chest Med 2024 Sep;45(3):717-728. Epub 2024 Mar 28 doi: 10.1016/j.ccm.2024.02.020. PMID: 39069333
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963Free PMC Article
Primary Ciliary Dyskinesia.
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178

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
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
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963Free PMC Article
A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.
Hine C, Desai M, Davies J, Sapey E, Nagakumar P
Respir Med 2022 Sep;201:106937. Epub 2022 Jul 21 doi: 10.1016/j.rmed.2022.106937. PMID: 35926429

Diagnosis

Respiratory Aspects of Primary Ciliary Dyskinesia.
De Jesús-Rojas W, Shapiro AJ, Shoemark A
Clin Chest Med 2024 Sep;45(3):717-728. Epub 2024 Mar 28 doi: 10.1016/j.ccm.2024.02.020. PMID: 39069333
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: A multicenter survey on clinical practice and patient management in Italy.
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Primary Ciliary Dyskinesia.
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178

Therapy

Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy.
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
Primary Ciliary Dyskinesia.
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG
Lancet Respir Med 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. PMID: 32380069
Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D, Mazzei F, Neri M, Pioggia G, Tartarisco G, Saggese G, Simi P, Boner AL
Pediatr Pulmonol 2015 Feb;50(2):179-86. Epub 2014 Apr 19 doi: 10.1002/ppul.23026. PMID: 24753481
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

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
Using electrical impedance tomography to characterize lung impairment of children with primary ciliary dyskinesia: A pilot cross-sectional study.
Pensabene M, Gambazza S, Carta F, Rocchi A, Lelii M, Madini B, Hassan V, Piotto M, Patria MF
Pediatr Pulmonol 2023 Apr;58(4):1051-1058. Epub 2022 Dec 29 doi: 10.1002/ppul.26293. PMID: 36571235
Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG
Lancet Respir Med 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. PMID: 32380069
A retrospective analysis of the pathogens in the airways of patients with primary ciliary dyskinesia.
Roden L, Görlich D, Omran H, Peters G, Große-Onnebrink J, Kahl BC
Respir Med 2019 Sep;156:69-77. Epub 2019 Aug 15 doi: 10.1016/j.rmed.2019.08.009. PMID: 31437650
A longitudinal study characterising a large adult primary ciliary dyskinesia population.
Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, Hansell DM, Wilson R, Loebinger MR
Eur Respir J 2016 Aug;48(2):441-50. Epub 2016 Jun 10 doi: 10.1183/13993003.00209-2016. PMID: 27288033

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
A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.
Hine C, Desai M, Davies J, Sapey E, Nagakumar P
Respir Med 2022 Sep;201:106937. Epub 2022 Jul 21 doi: 10.1016/j.rmed.2022.106937. PMID: 35926429
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Comorbidities in situs inversus totalis: A hospital-based study.
Chen W, Guo Z, Qian L, Wang L
Birth Defects Res 2020 Mar;112(5):418-426. Epub 2020 Jan 29 doi: 10.1002/bdr2.1652. PMID: 31994846
Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D, Mazzei F, Neri M, Pioggia G, Tartarisco G, Saggese G, Simi P, Boner AL
Pediatr Pulmonol 2015 Feb;50(2):179-86. Epub 2014 Apr 19 doi: 10.1002/ppul.23026. PMID: 24753481

Recent systematic reviews

A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.
Hine C, Desai M, Davies J, Sapey E, Nagakumar P
Respir Med 2022 Sep;201:106937. Epub 2022 Jul 21 doi: 10.1016/j.rmed.2022.106937. PMID: 35926429

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