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Primary ciliary dyskinesia 16(CILD16)

MedGen UID:
462810
Concept ID:
C3151460
Disease or Syndrome
Synonyms: CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary Dyskinesia
 
Gene (location): DNAL1 (14q24.3)
 
Monarch Initiative: MONDO:0013525
OMIM®: 614017

Definition

Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Additional description

From MedlinePlus Genetics
Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.

Another 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.

Primary 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.

Some 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.

Approximately 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.

In 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.

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.  https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia

Clinical features

From HPO
Pulmonary valve insufficiency
MedGen UID:
11031
Concept ID:
C0034088
Pathologic Function
The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
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.
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.
Abnormal ciliary motility
MedGen UID:
868584
Concept ID:
C4022983
Anatomical Abnormality
Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
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.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
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.
Chronic rhinitis
MedGen UID:
3086
Concept ID:
C0008711
Disease or Syndrome
Chronic inflammation of the nasal mucosa.

Term Hierarchy

Professional guidelines

PubMed

Gaillard EA, Kuehni CE, Turner S, Goutaki M, Holden KA, de Jong CCM, Lex C, Lo DKH, Lucas JS, Midulla F, Mozun R, Piacentini G, Rigau D, Rottier B, Thomas M, Tonia T, Usemann J, Yilmaz O, Zacharasiewicz A, Moeller A
Eur Respir J 2021 Oct;58(5) Epub 2021 Nov 4 doi: 10.1183/13993003.04173-2020. PMID: 33863747
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA
Am J Respir Crit Care Med 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568Free PMC Article

Recent clinical studies

Etiology

Mei M, Dai D, Guo Z, Zhang C, Liu J, Qi Y, Wang X, Wang L, Qian L
Pediatr Pulmonol 2023 Jun;58(6):1674-1682. Epub 2023 Mar 21 doi: 10.1002/ppul.26374. PMID: 36919525
Li Y, Fu W, Geng G, Dai J, Fu Z, Tian D
BMC Pediatr 2022 Jul 8;22(1):402. doi: 10.1186/s12887-022-03469-x. PMID: 35804324Free PMC Article
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
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
Degano B, Valmary S, Serrano E, Brousset P, Arnal JF
Hum Pathol 2011 Dec;42(12):1855-61. Epub 2011 Jun 12 doi: 10.1016/j.humpath.2011.01.027. PMID: 21663943

Diagnosis

Mei M, Dai D, Guo Z, Zhang C, Liu J, Qi Y, Wang X, Wang L, Qian L
Pediatr Pulmonol 2023 Jun;58(6):1674-1682. Epub 2023 Mar 21 doi: 10.1002/ppul.26374. PMID: 36919525
Li Y, Fu W, Geng G, Dai J, Fu Z, Tian D
BMC Pediatr 2022 Jul 8;22(1):402. doi: 10.1186/s12887-022-03469-x. PMID: 35804324Free PMC Article
Gaillard EA, Kuehni CE, Turner S, Goutaki M, Holden KA, de Jong CCM, Lex C, Lo DKH, Lucas JS, Midulla F, Mozun R, Piacentini G, Rigau D, Rottier B, Thomas M, Tonia T, Usemann J, Yilmaz O, Zacharasiewicz A, Moeller A
Eur Respir J 2021 Oct;58(5) Epub 2021 Nov 4 doi: 10.1183/13993003.04173-2020. PMID: 33863747
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article
Boon M, Jorissen M, Proesmans M, De Boeck K
Eur J Pediatr 2013 Feb;172(2):151-62. Epub 2012 Jul 10 doi: 10.1007/s00431-012-1785-6. PMID: 22777640

Therapy

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
Gaillard EA, Kuehni CE, Turner S, Goutaki M, Holden KA, de Jong CCM, Lex C, Lo DKH, Lucas JS, Midulla F, Mozun R, Piacentini G, Rigau D, Rottier B, Thomas M, Tonia T, Usemann J, Yilmaz O, Zacharasiewicz A, Moeller A
Eur Respir J 2021 Oct;58(5) Epub 2021 Nov 4 doi: 10.1183/13993003.04173-2020. PMID: 33863747
Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H
Respir Med 2016 Oct;119:41-47. Epub 2016 Aug 23 doi: 10.1016/j.rmed.2016.08.015. PMID: 27692146
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article
Boon M, Jorissen M, Proesmans M, De Boeck K
Eur J Pediatr 2013 Feb;172(2):151-62. Epub 2012 Jul 10 doi: 10.1007/s00431-012-1785-6. PMID: 22777640

Prognosis

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
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
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
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA
Am J Respir Crit Care Med 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568Free PMC Article

Clinical prediction guides

Zhang RL, Pan CX, Tang CL, Cen LJ, Zhang XX, Huang Y, Lin ZH, Li HM, Zhang XF, Wang L, Guan WJ, Wang Y
Chest 2023 May;163(5):1038-1050. Epub 2022 Nov 24 doi: 10.1016/j.chest.2022.11.022. PMID: 36435264
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
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
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
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA
Am J Respir Crit Care Med 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568Free PMC Article

Recent systematic reviews

Cheng L, Dong Y, Liu S
J Cardiothorac Vasc Anesth 2023 Jun;37(6):1021-1025. Epub 2023 Feb 3 doi: 10.1053/j.jvca.2023.01.033. PMID: 36849313
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
Møller ME, Alanin MC, Grønhøj C, Aanæs K, Høiby N, von Buchwald C
Am J Rhinol Allergy 2017 Sep 1;31(5):293-298. doi: 10.2500/ajra.2017.31.4461. PMID: 28859703Free PMC Article
Brower KS, Del Vecchio MT, Aronoff SC
BMC Pediatr 2014 Dec 10;14:4. doi: 10.1186/s12887-014-0299-y. PMID: 25492164Free PMC Article

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