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Primary ciliary dyskinesia 26(CILD26)

MedGen UID:
816014
Concept ID:
C3809684
Disease or Syndrome
Synonyms: CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 26, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 26, WITHOUT SITUS INVERSUS
 
Gene (location): CFAP298 (21q22.11)
 
Monarch Initiative: MONDO:0014211
OMIM®: 615500

Definition

Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (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
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Reduced sperm motility
MedGen UID:
907698
Concept ID:
C4082176
Finding
An abnormal reduction in the mobility of ejaculated sperm.
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.
Immotile cilia
MedGen UID:
383738
Concept ID:
C1855672
Finding
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.
Absent outer dynein arms
MedGen UID:
868590
Concept ID:
C4022989
Finding
Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
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

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
Behan L, Leigh MW, Dell SD, Dunn Galvin A, Quittner AL, Lucas JS
Thorax 2017 Sep;72(9):832-839. Epub 2017 Feb 28 doi: 10.1136/thoraxjnl-2016-209356. PMID: 28246220Free PMC Article
Rumman N, Jackson C, Collins S, Goggin P, Coles J, Lucas JS
Eur Respir Rev 2017 Jan;26(143) Epub 2017 Jan 17 doi: 10.1183/16000617.0058-2016. PMID: 28096286Free PMC Article

Recent clinical studies

Etiology

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Frija-Masson J, Bassinet L, Honoré I, Dufeu N, Housset B, Coste A, Papon JF, Escudier E, Burgel PR, Maître B
Thorax 2017 Feb;72(2):154-160. Epub 2016 Jul 5 doi: 10.1136/thoraxjnl-2015-207891. PMID: 27382041
Pifferi M, Bush A, Pioggia G, Caramella D, Tartarisco G, Di Cicco M, Zangani M, Chinellato I, Maggi F, Tezza G, Macchia P, Boner A
Thorax 2012 Nov;67(11):993-9. Epub 2012 Jul 7 doi: 10.1136/thoraxjnl-2011-200137. PMID: 22771515
Waters AM, Beales PL
Pediatr Nephrol 2011 Jul;26(7):1039-56. Epub 2011 Jan 6 doi: 10.1007/s00467-010-1731-7. PMID: 21210154Free PMC Article

Diagnosis

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
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
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Pifferi M, Bush A, Pioggia G, Caramella D, Tartarisco G, Di Cicco M, Zangani M, Chinellato I, Maggi F, Tezza G, Macchia P, Boner A
Thorax 2012 Nov;67(11):993-9. Epub 2012 Jul 7 doi: 10.1136/thoraxjnl-2011-200137. PMID: 22771515

Therapy

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
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
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
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
Ratjen F
Pediatr Pulmonol Suppl 2004;26:154-5. doi: 10.1002/ppul.70090. PMID: 15029636

Prognosis

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW
Eur J Hum Genet 2019 Apr;27(4):563-573. Epub 2019 Jan 8 doi: 10.1038/s41431-018-0307-z. PMID: 30622330Free PMC Article
Frija-Masson J, Bassinet L, Honoré I, Dufeu N, Housset B, Coste A, Papon JF, Escudier E, Burgel PR, Maître B
Thorax 2017 Feb;72(2):154-160. Epub 2016 Jul 5 doi: 10.1136/thoraxjnl-2015-207891. PMID: 27382041
Pifferi M, Bush A, Pioggia G, Caramella D, Tartarisco G, Di Cicco M, Zangani M, Chinellato I, Maggi F, Tezza G, Macchia P, Boner A
Thorax 2012 Nov;67(11):993-9. Epub 2012 Jul 7 doi: 10.1136/thoraxjnl-2011-200137. PMID: 22771515

Clinical prediction guides

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
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
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW
Eur J Hum Genet 2019 Apr;27(4):563-573. Epub 2019 Jan 8 doi: 10.1038/s41431-018-0307-z. PMID: 30622330Free PMC Article
Gascue C, Katsanis N, Badano JL
Pediatr Nephrol 2011 Aug;26(8):1181-95. Epub 2010 Nov 27 doi: 10.1007/s00467-010-1697-5. PMID: 21113628Free PMC Article

Recent systematic reviews

Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V
Ann Am Thorac Soc 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR. PMID: 28481653Free PMC Article
Behan L, Rubbo B, Lucas JS, Dunn Galvin A
Qual Life Res 2017 Sep;26(9):2265-2285. Epub 2017 Mar 30 doi: 10.1007/s11136-017-1564-y. PMID: 28361274Free PMC Article
Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI
Pediatr Res 2017 Mar;81(3):398-405. Epub 2016 Dec 9 doi: 10.1038/pr.2016.263. PMID: 27935903

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