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Primary ciliary dyskinesia 18(CILD18)

MedGen UID:
762331
Concept ID:
C3543825
Disease or Syndrome
Synonyms: CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia18: HEATR2-Related Primary Ciliary Dyskinesia
 
Gene (location): DNAAF5 (7p22.3)
 
Monarch Initiative: MONDO:0013940
OMIM®: 614874

Definition

Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012). [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.
Immotile sperm
MedGen UID:
701339
Concept ID:
C1278278
Finding
A lack of 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.
Abdominal situs ambiguus
MedGen UID:
1622585
Concept ID:
C4531036
Anatomical Abnormality
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
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.
Absent inner dynein arms
MedGen UID:
868589
Concept ID:
C4022988
Finding
Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
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

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Morgan LC, Birman CS
Paediatr Respir Rev 2016 Mar;18:33-8. Epub 2015 Oct 23 doi: 10.1016/j.prrv.2015.09.006. PMID: 26898410
Polineni D, Davis SD, Dell SD
Paediatr Respir Rev 2016 Mar;18:39-45. Epub 2015 Oct 20 doi: 10.1016/j.prrv.2015.10.002. PMID: 26586601

Recent clinical studies

Etiology

Demir Eksi D, Yilmaz E, Basaran AE, Erduran G, Nur B, Mihci E, Karadag B, Bingol A, Alper OM
Indian J Pediatr 2022 Jul;89(7):682-691. Epub 2022 Mar 3 doi: 10.1007/s12098-022-04098-z. PMID: 35239159
Valero-Moreno S, Castillo-Corullón S, Montoya-Castilla I, Pérez-Marín M
PLoS One 2020;15(1):e0227888. Epub 2020 Jan 23 doi: 10.1371/journal.pone.0227888. PMID: 31971980Free PMC Article
Harrison MJ, Shapiro AJ, Kennedy MP
Paediatr Respir Rev 2016 Mar;18:25-32. Epub 2015 Sep 26 doi: 10.1016/j.prrv.2015.09.003. PMID: 26545972
Dhar DK, Ganguly KC, Alam S, Hossain A, Sarker UK, Das BK, Haque MJ
Mymensingh Med J 2009 Jan;18(1):75-9. PMID: 19182755
Duse M, Caminiti S, Zicari AM
Pediatr Allergy Immunol 2007 Nov;18 Suppl 18:71-4. doi: 10.1111/j.1399-3038.2007.00639.x. PMID: 17767614

Diagnosis

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Valero-Moreno S, Castillo-Corullón S, Montoya-Castilla I, Pérez-Marín M
PLoS One 2020;15(1):e0227888. Epub 2020 Jan 23 doi: 10.1371/journal.pone.0227888. PMID: 31971980Free PMC Article
Fitzgerald DA, Shapiro AJ
Paediatr Respir Rev 2016 Mar;18:1-2. Epub 2015 Dec 29 doi: 10.1016/j.prrv.2015.11.010. PMID: 26826908
Harrison MJ, Shapiro AJ, Kennedy MP
Paediatr Respir Rev 2016 Mar;18:25-32. Epub 2015 Sep 26 doi: 10.1016/j.prrv.2015.09.003. PMID: 26545972
Horani A, Ferkol TW, Dutcher SK, Brody SL
Paediatr Respir Rev 2016 Mar;18:18-24. Epub 2015 Sep 11 doi: 10.1016/j.prrv.2015.09.001. PMID: 26476603Free PMC Article

Therapy

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
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
Paff T, Omran H, Nielsen KG, Haarman EG
Int J Mol Sci 2021 Sep 11;22(18) doi: 10.3390/ijms22189834. PMID: 34575997Free PMC Article
Güney E, Emiralioğlu N, Cinel G, Yalçın E, Doğru D, Kiper N, Özçelik HU
Turk J Pediatr 2019;61(1):20-25. doi: 10.24953/turkjped.2019.01.004. PMID: 31559717
Dhar DK, Ganguly KC, Alam S, Hossain A, Sarker UK, Das BK, Haque MJ
Mymensingh Med J 2009 Jan;18(1):75-9. PMID: 19182755

Prognosis

Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D
Ann Am Thorac Soc 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
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
Morgan LC, Birman CS
Paediatr Respir Rev 2016 Mar;18:33-8. Epub 2015 Oct 23 doi: 10.1016/j.prrv.2015.09.006. PMID: 26898410
Fitzgerald DA, Shapiro AJ
Paediatr Respir Rev 2016 Mar;18:1-2. Epub 2015 Dec 29 doi: 10.1016/j.prrv.2015.11.010. PMID: 26826908

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
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
Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523
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
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PMID: 25493340Free PMC Article

Recent systematic reviews

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
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N
BMC Pulm Med 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4. PMID: 31345208Free PMC Article

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