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Ciliary dyskinesia, primary, 38(CILD38)

MedGen UID:
1648465
Concept ID:
C4748052
Disease or Syndrome
Synonyms: CILD38; CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): CFAP300 (11q22.1)
 
Monarch Initiative: MONDO:0054843
OMIM®: 618063

Definition

Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (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.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
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.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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.
Productive cough
MedGen UID:
66781
Concept ID:
C0239134
Finding
A cough that produces phlegm or mucus.
Immotile cilia
MedGen UID:
383738
Concept ID:
C1855672
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 and outer dynein arms
MedGen UID:
868587
Concept ID:
C4022986
Finding
Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and 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.
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.
Rhinitis
MedGen UID:
19782
Concept ID:
C0035455
Disease or Syndrome
Inflammation of the nasal mucosa with nasal congestion.

Term Hierarchy

Professional guidelines

PubMed

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963Free PMC Article
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761

Recent clinical studies

Etiology

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963Free PMC Article
Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG; Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):89-101. Epub 2022 Mar 27 doi: 10.1002/ajmg.c.31968. PMID: 35343062Free 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
Pifferi M, Bush A, Caramella D, Metelli MR, Di Cicco M, Piras M, Gherarducci G, Capristo C, Maggi F, Peroni D, Boner AL
Respir Med 2017 Mar;124:49-56. Epub 2017 Feb 2 doi: 10.1016/j.rmed.2017.02.001. PMID: 28284321

Diagnosis

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Rezaei M, Soheili A, Ziai SA, Fakharian A, Toreyhi H, Pourabdollah M, Ghorbani J, Karimi-Galougahi M, Mahdaviani SA, Hasanzad M, Eslaminejad A, Ghaffaripour HA, Mahmoudian S, Rodafshani Z, Mirenayat MS, Varahram M, Marjani M, Tabarsi P, Mansouri D, Jamaati HR, Velayati AA
Sci Rep 2022 Feb 11;12(1):2375. doi: 10.1038/s41598-022-06370-w. PMID: 35149751Free PMC Article
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
Butterfield R
Pediatr Rev 2017 Mar;38(3):145-146. doi: 10.1542/pir.2016-0108. PMID: 28250080
Zariwala MA, Knowles MR, Omran H
Annu Rev Physiol 2007;69:423-50. doi: 10.1146/annurev.physiol.69.040705.141301. PMID: 17059358

Therapy

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392Free PMC Article
Holgersen MG, Marthin JK, Johansen HK, Nielsen KG
Chron Respir Dis 2021 Jan-Dec;18:14799731211061600. doi: 10.1177/14799731211061600. PMID: 34854775Free PMC Article
Harris A
Nurs Child Young People 2017 Sep 11;29(7):38-47. doi: 10.7748/ncyp.2017.e936. PMID: 29115761
Boon M, Vermeulen FL, Gysemans W, Proesmans M, Jorissen M, De Boeck K
Thorax 2015 Apr;70(4):339-45. Epub 2015 Feb 11 doi: 10.1136/thoraxjnl-2014-206578. PMID: 25673230

Prognosis

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392Free PMC Article
Holgersen MG, Marthin JK, Johansen HK, Nielsen KG
Chron Respir Dis 2021 Jan-Dec;18:14799731211061600. doi: 10.1177/14799731211061600. PMID: 34854775Free 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

Clinical prediction guides

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392Free 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
Pifferi M, Bush A, Caramella D, Metelli MR, Di Cicco M, Piras M, Gherarducci G, Capristo C, Maggi F, Peroni D, Boner AL
Respir Med 2017 Mar;124:49-56. Epub 2017 Feb 2 doi: 10.1016/j.rmed.2017.02.001. PMID: 28284321

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