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Abnormal mucociliary clearance

MedGen UID:
1642342
Concept ID:
C4703435
Finding
Synonym: Abnormal mucociliary transport
 
HPO: HP:0031602

Definition

An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal mucociliary clearance

Conditions with this feature

Ciliary dyskinesia, primary, 47, and lissencephaly
MedGen UID:
1794161
Concept ID:
C5561951
Disease or Syndrome
Primary ciliary dyskinesia-47 and lissencephaly (CILD47) is an autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. The disorder results from impaired function of motile ciliopathy and can be classified as 'reduced generation of multiple motile cilia' (RGMC). Situs inversus is not observed (summary by Wallmeier et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

Professional guidelines

PubMed

Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT
Expert Rev Respir Med 2017 Oct;11(10):779-790. Epub 2017 Aug 2 doi: 10.1080/17476348.2017.1360770. PMID: 28745925
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656

Recent clinical studies

Etiology

Yaniv D, Stern D, Vainer I, Ben Zvi H, Yahav D, Soudry E
Eur Arch Otorhinolaryngol 2020 Nov;277(11):3051-3057. Epub 2020 Jul 4 doi: 10.1007/s00405-020-06157-7. PMID: 32623506
Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO)
Ann Am Thorac Soc 2018 Apr;15(4):440-448. doi: 10.1513/AnnalsATS.201706-451OC. PMID: 29323929Free PMC Article
Prior MJ, Schofield K, Boivin CM, Anderson P, Drake-Lee AB
Clin Otolaryngol Allied Sci 1999 Jun;24(3):242-6. doi: 10.1046/j.1365-2273.1999.00257.x. PMID: 10384855

Diagnosis

Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ
Pediatrics 2024 Jun 1;153(6) doi: 10.1542/peds.2023-063064. PMID: 38695103Free PMC Article
Palma Portes K, Monteiro Marone SA, Yoshimitsu Goto E, Palma C, Macca Ferreira Jorge MR, Cavazzani Szkudlarek DA
Braz J Otorhinolaryngol 2007 Nov-Dec;73(6):852-856. doi: 10.1016/S1808-8694(15)31186-1. PMID: 18278236Free PMC Article
Prior MJ, Schofield K, Boivin CM, Anderson P, Drake-Lee AB
Clin Otolaryngol Allied Sci 1999 Jun;24(3):242-6. doi: 10.1046/j.1365-2273.1999.00257.x. PMID: 10384855
Stanley P, MacWilliam L, Greenstone M, Mackay I, Cole P
Br J Dis Chest 1984 Jan;78(1):62-5. PMID: 6691910

Therapy

Fowler C, Wu UI, Shaffer R, Smith C, Barnhart L, Bryant C, Olivier K, Holland SM
BMJ Open Respir Res 2020 Mar;7(1) doi: 10.1136/bmjresp-2020-000574. PMID: 32169832Free PMC Article
Toprak D, Davis C, Rosenfeld M
Semin Respir Crit Care Med 2019 Dec;40(6):751-761. Epub 2019 Oct 28 doi: 10.1055/s-0039-1698462. PMID: 31659732
Robinson M, Bye PT
Pediatr Pulmonol 2002 Apr;33(4):293-306. doi: 10.1002/ppul.10079. PMID: 11921459
Daviskas E, Anderson SD, Brannan JD, Chan HK, Eberl S, Bautovich G
Eur Respir J 1997 Nov;10(11):2449-54. doi: 10.1183/09031936.97.10112449. PMID: 9426077
Boucher RC, Knowles MR, Johnson LG, Olsen JC, Pickles R, Wilson JM, Engelhardt J, Yang Y, Grossman M
Hum Gene Ther 1994 May;5(5):615-39. doi: 10.1089/hum.1994.5.5-615. PMID: 7519885

Prognosis

Yaniv D, Stern D, Vainer I, Ben Zvi H, Yahav D, Soudry E
Eur Arch Otorhinolaryngol 2020 Nov;277(11):3051-3057. Epub 2020 Jul 4 doi: 10.1007/s00405-020-06157-7. PMID: 32623506

Clinical prediction guides

Yaniv D, Stern D, Vainer I, Ben Zvi H, Yahav D, Soudry E
Eur Arch Otorhinolaryngol 2020 Nov;277(11):3051-3057. Epub 2020 Jul 4 doi: 10.1007/s00405-020-06157-7. PMID: 32623506

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