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Primary ciliary dyskinesia 27(CILD27)

MedGen UID:
816031
Concept ID:
C3809701
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS
 
Gene (location): CCDC65 (12q13.12)
 
Monarch Initiative: MONDO:0014215
OMIM®: 615504

Definition

Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Clinical features

From HPO
Situs inversus
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.
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.
Chronic bronchitis
MedGen UID:
3084
Concept ID:
C0008677
Disease or Syndrome
Chronic inflammation of the bronchi.
Primary ciliary dyskinesia
MedGen UID:
3467
Concept ID:
C0008780
Disease or Syndrome
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Respiratory insufficiency due to defective ciliary clearance
MedGen UID:
765013
Concept ID:
C3552099
Finding
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.
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.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Rhinitis
MedGen UID:
19782
Concept ID:
C0035455
Disease or Syndrome
Inflammation of the nasal mucosa with nasal congestion.

Term Hierarchy

Professional guidelines

PubMed

Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S, Maitre B; COVID-PCD Patient Advisory Group, Kuehni CE, Pedersen ESL
Pediatr Pulmonol 2024 Feb;59(2):281-290. Epub 2023 Nov 7 doi: 10.1002/ppul.26743. PMID: 37933800
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
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

Recent clinical studies

Etiology

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
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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
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
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786

Diagnosis

Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Price ME, Sisson JH
Redox Biol 2019 Oct;27:101146. Epub 2019 Feb 25 doi: 10.1016/j.redox.2019.101146. PMID: 30833143Free PMC Article
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
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

Therapy

Gatt D, Shaw M, Wee W, Solomon M, Dell SD, Ratjen F
Ann Am Thorac Soc 2023 Jun;20(6):854-860. doi: 10.1513/AnnalsATS.202210-858OC. PMID: 36753426
Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD
Ann Am Thorac Soc 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736Free PMC Article
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
Wolter NE, Dell SD, James AL, Campisi P
Int J Pediatr Otorhinolaryngol 2012 Nov;76(11):1565-8. Epub 2012 Aug 9 doi: 10.1016/j.ijporl.2012.07.011. PMID: 22883987
Prulière-Escabasse V, Coste A, Chauvin P, Fauroux B, Tamalet A, Garabedian EN, Escudier E, Roger G
Arch Otolaryngol Head Neck Surg 2010 Nov;136(11):1121-6. doi: 10.1001/archoto.2010.183. PMID: 21079168Free PMC Article

Prognosis

Pedersen ESL, Schreck LD, Goutaki M, Bellu S, Copeland F, Lucas JS, Zwahlen M, Kuehni CE
Int J Public Health 2023;68:1605561. Epub 2023 Aug 17 doi: 10.3389/ijph.2023.1605561. PMID: 37663372Free PMC Article
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
Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD
Ann Am Thorac Soc 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736Free PMC Article
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
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

Clinical prediction guides

Shafiq I, Wahla AS, Uzbeck MH, Zoumot Z, Abuzakouk M, Elkhalifa S, Bodi G, Almazrouei KM, Bodi K, Isse S
BMC Pulm Med 2023 Jul 10;23(1):250. doi: 10.1186/s12890-023-02543-z. PMID: 37430275Free PMC Article
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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
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
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786

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