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Ciliary dyskinesia, primary, 39(CILD39)

MedGen UID:
1648363
Concept ID:
C4748841
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 39, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): LRRC56 (11p15.5)
 
Monarch Initiative: MONDO:0032637
OMIM®: 618254

Definition

Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by Bonnefoy et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Clinical features

From HPO
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.
Double outlet right ventricle
MedGen UID:
41649
Concept ID:
C0013069
Congenital Abnormality
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
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.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Rhinorrhea
MedGen UID:
226777
Concept ID:
C1260880
Sign or Symptom
Increased discharge of mucus from the nose.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
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 otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.

Professional guidelines

PubMed

Alanin MC
Dan Med J 2017 May;64(5) PMID: 28552099
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C
Am J Respir Crit Care Med 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. PMID: 28199173Free PMC Article
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

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
Piatti G, Ambrosetti U, Aldè M, Girotto G, Concas MP, Torretta S
Laryngoscope 2023 Feb;133(2):248-254. Epub 2022 Mar 21 doi: 10.1002/lary.30112. PMID: 35312075Free PMC Article
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
Cohen-Cymberknoh M, Atia O, Gileles-Hillel A, Kerem E, Reiter J
Respir Med 2019 May;151:96-101. Epub 2019 Apr 5 doi: 10.1016/j.rmed.2019.03.022. PMID: 31047123
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

Diagnosis

Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT
Pediatr Pulmonol 2021 Aug;56(8):2717-2723. Epub 2021 Jun 21 doi: 10.1002/ppul.25533. PMID: 34133086
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C
Am J Respir Crit Care Med 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. PMID: 28199173Free 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
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
Bukowy Z, Ziętkiewicz E, Witt M
J Appl Genet 2011 Feb;52(1):39-51. Epub 2010 Dec 2 doi: 10.1007/s13353-010-0005-1. PMID: 21125367Free PMC Article

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
Alanin MC
Dan Med J 2017 May;64(5) PMID: 28552099
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
Zihlif N, Paraskakis E, Lex C, Van de Pohl LA, Bush A
Pediatr Pulmonol 2005 Jun;39(6):551-7. doi: 10.1002/ppul.20202. PMID: 15806596

Prognosis

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
Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. PMID: 35984413Free PMC Article
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
Alanin MC
Dan Med J 2017 May;64(5) PMID: 28552099
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

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
Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. PMID: 35984413Free PMC Article
Piatti G, Ambrosetti U, Aldè M, Girotto G, Concas MP, Torretta S
Laryngoscope 2023 Feb;133(2):248-254. Epub 2022 Mar 21 doi: 10.1002/lary.30112. PMID: 35312075Free PMC Article
Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT
Pediatr Pulmonol 2021 Aug;56(8):2717-2723. Epub 2021 Jun 21 doi: 10.1002/ppul.25533. PMID: 34133086
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

Recent systematic reviews

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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