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Primary ciliary dyskinesia 29(CILD29)

MedGen UID:
862971
Concept ID:
C4014534
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS
 
Gene (location): CCNO (5q11.2)
 
Monarch Initiative: MONDO:0014378
OMIM®: 615872

Definition

Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014). For a 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.
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.
Atelectasis
MedGen UID:
13946
Concept ID:
C0004144
Pathologic Function
Collapse of part of a lung associated with absence of inflation (air) of that part.
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.
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.
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Elevated sweat chloride
MedGen UID:
347278
Concept ID:
C1856646
Finding
An increased concentration of chloride in the sweat.

Term Hierarchy

Professional guidelines

PubMed

Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
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
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827

Recent clinical studies

Etiology

Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I
Genes (Basel) 2023 Feb 21;14(3) doi: 10.3390/genes14030541. PMID: 36980814Free PMC Article
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
Newman L, Chopra J, Dossett C, Shepherd E, Bercusson A, Carroll M, Walker W, Lucas JS, Cheong Y
Hum Reprod Update 2023 May 2;29(3):347-367. doi: 10.1093/humupd/dmad003. PMID: 36721921Free PMC Article
Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ
Pediatr Pulmonol 2022 May;57(5):1318-1324. Epub 2022 Feb 21 doi: 10.1002/ppul.25853. PMID: 35122416Free PMC Article
Simsek S, Inal-Ince D, Cakmak A, Emiralioglu N, Calik-Kutukcu E, Saglam M, Vardar-Yagli N, Ozcelik HU, Sonbahar-Ulu H, Bozdemir-Ozel C, Kiper N, Arikan H
Eur J Pediatr 2018 May;177(5):765-773. Epub 2018 Feb 27 doi: 10.1007/s00431-018-3121-2. PMID: 29487997

Diagnosis

Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I
Genes (Basel) 2023 Feb 21;14(3) doi: 10.3390/genes14030541. PMID: 36980814Free PMC Article
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
Hammoudeh S, Gadelhak W, Janahi IA
Paediatr Respir Rev 2019 Feb;29:19-22. Epub 2018 Sep 15 doi: 10.1016/j.prrv.2018.09.002. PMID: 30792130
Kurkowiak M, Ziętkiewicz E, Witt M
J Med Genet 2015 Jan;52(1):1-9. Epub 2014 Oct 28 doi: 10.1136/jmedgenet-2014-102755. PMID: 25351953Free PMC Article
Meeks M, Bush A
Pediatr Pulmonol 2000 Apr;29(4):307-16. doi: 10.1002/(sici)1099-0496(200004)29:4<307::aid-ppul11>3.0.co;2-2. PMID: 10738019

Therapy

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
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article
Madsen A, Green K, Buchvald F, Hanel B, Nielsen KG
PLoS One 2013;8(8):e71409. Epub 2013 Aug 19 doi: 10.1371/journal.pone.0071409. PMID: 23977038Free PMC Article
Carlén B, Stenram U
Ultrastruct Pathol 2005 May-Aug;29(3-4):217-20. doi: 10.1080/01913120590951220. PMID: 16036877

Prognosis

Newman L, Chopra J, Dossett C, Shepherd E, Bercusson A, Carroll M, Walker W, Lucas JS, Cheong Y
Hum Reprod Update 2023 May 2;29(3):347-367. doi: 10.1093/humupd/dmad003. PMID: 36721921Free PMC Article
Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S
J Hum Genet 2020 Nov;65(11):961-969. Epub 2020 Jun 18 doi: 10.1038/s10038-020-0790-2. PMID: 32555313
Simsek S, Inal-Ince D, Cakmak A, Emiralioglu N, Calik-Kutukcu E, Saglam M, Vardar-Yagli N, Ozcelik HU, Sonbahar-Ulu H, Bozdemir-Ozel C, Kiper N, Arikan H
Eur J Pediatr 2018 May;177(5):765-773. Epub 2018 Feb 27 doi: 10.1007/s00431-018-3121-2. PMID: 29487997
Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, Boon M, Casaulta C, Clement A, Crowley S, Haarman E, Hogg C, Karadag B, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Schwerk N, Scigliano S, Werner C, Yiallouros P, Zivkovic Z, Lucas JS, Kuehni CE; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium
Eur Respir J 2017 Jan;49(1) Epub 2017 Jan 4 doi: 10.1183/13993003.01181-2016. PMID: 28052956Free PMC Article
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article

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
Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I
Genes (Basel) 2023 Feb 21;14(3) doi: 10.3390/genes14030541. PMID: 36980814Free PMC Article
Newman L, Chopra J, Dossett C, Shepherd E, Bercusson A, Carroll M, Walker W, Lucas JS, Cheong Y
Hum Reprod Update 2023 May 2;29(3):347-367. doi: 10.1093/humupd/dmad003. PMID: 36721921Free PMC Article
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
Niziolek M, Bicka M, Osinka A, Samsel Z, Sekretarska J, Poprzeczko M, Bazan R, Fabczak H, Joachimiak E, Wloga D
Int J Mol Sci 2022 Feb 3;23(3) doi: 10.3390/ijms23031749. PMID: 35163666Free 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

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