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Ciliary dyskinesia with transposition of ciliary microtubules

MedGen UID:
388736
Concept ID:
C2673817
Disease or Syndrome
Synonym: Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
 
Monarch Initiative: MONDO:0008985
OMIM®: 215520

Clinical features

From HPO
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\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\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\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 sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Abnormal respiratory motile cilium morphology
MedGen UID:
870646
Concept ID:
C4025100
Anatomical Abnormality
Abnormal arrangement of the structures of the motile cilium.

Recent clinical studies

Etiology

Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M
PLoS One 2012;7(3):e33667. Epub 2012 Mar 20 doi: 10.1371/journal.pone.0033667. PMID: 22448264Free PMC Article
Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC
J Appl Physiol (1985) 2011 Jul;111(1):295-302. Epub 2011 May 5 doi: 10.1152/japplphysiol.00629.2010. PMID: 21551013Free PMC Article
Plesec TP, Ruiz A, McMahon JT, Prayson RA
Arch Pathol Lab Med 2008 Nov;132(11):1786-91. doi: 10.5858/132.11.1786. PMID: 18976016
Lurie M, Rennert G, Goldenberg S, Rivlin J, Greenberg E, Katz I
Ultrastruct Pathol 1992 Sep-Oct;16(5):547-53. doi: 10.3109/01913129209061546. PMID: 1440977

Diagnosis

Yin W, Livraghi-Butrico A, Sears PR, Rogers TD, Burns KA, Grubb BR, Ostrowski LE
Am J Respir Cell Mol Biol 2019 Sep;61(3):312-321. doi: 10.1165/rcmb.2017-0387OC. PMID: 30896965Free PMC Article
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM
Hum Mol Genet 2014 Jul 1;23(13):3362-74. Epub 2014 Feb 11 doi: 10.1093/hmg/ddu046. PMID: 24518672Free PMC Article
Shoemark A, Dixon M, Corrin B, Dewar A
J Clin Pathol 2012 Mar;65(3):267-71. Epub 2011 Dec 1 doi: 10.1136/jclinpath-2011-200415. PMID: 22135026
Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC
J Appl Physiol (1985) 2011 Jul;111(1):295-302. Epub 2011 May 5 doi: 10.1152/japplphysiol.00629.2010. PMID: 21551013Free PMC Article
Plesec TP, Ruiz A, McMahon JT, Prayson RA
Arch Pathol Lab Med 2008 Nov;132(11):1786-91. doi: 10.5858/132.11.1786. PMID: 18976016

Therapy

Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM
Hum Mol Genet 2014 Jul 1;23(13):3362-74. Epub 2014 Feb 11 doi: 10.1093/hmg/ddu046. PMID: 24518672Free PMC Article
Plesec TP, Ruiz A, McMahon JT, Prayson RA
Arch Pathol Lab Med 2008 Nov;132(11):1786-91. doi: 10.5858/132.11.1786. PMID: 18976016
Afzelius BA
Int J Dev Biol 1999 Jul;43(4):283-6. PMID: 10470644

Prognosis

Shoemark A, Dixon M, Corrin B, Dewar A
J Clin Pathol 2012 Mar;65(3):267-71. Epub 2011 Dec 1 doi: 10.1136/jclinpath-2011-200415. PMID: 22135026
Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC
J Appl Physiol (1985) 2011 Jul;111(1):295-302. Epub 2011 May 5 doi: 10.1152/japplphysiol.00629.2010. PMID: 21551013Free PMC Article

Clinical prediction guides

Yin W, Livraghi-Butrico A, Sears PR, Rogers TD, Burns KA, Grubb BR, Ostrowski LE
Am J Respir Cell Mol Biol 2019 Sep;61(3):312-321. doi: 10.1165/rcmb.2017-0387OC. PMID: 30896965Free PMC Article
Burgoyne T, Lewis A, Dewar A, Luther P, Hogg C, Shoemark A, Dixon M
Cytoskeleton (Hoboken) 2014 May;71(5):294-301. Epub 2014 Mar 25 doi: 10.1002/cm.21171. PMID: 24616277
Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M
PLoS One 2012;7(3):e33667. Epub 2012 Mar 20 doi: 10.1371/journal.pone.0033667. PMID: 22448264Free PMC Article
Shoemark A, Dixon M, Corrin B, Dewar A
J Clin Pathol 2012 Mar;65(3):267-71. Epub 2011 Dec 1 doi: 10.1136/jclinpath-2011-200415. PMID: 22135026
Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC
J Appl Physiol (1985) 2011 Jul;111(1):295-302. Epub 2011 May 5 doi: 10.1152/japplphysiol.00629.2010. PMID: 21551013Free PMC Article

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