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Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus

MedGen UID:
1647157
•Concept ID:
C4552030
•
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
 
OMIM®: 603339; 611884

Professional guidelines

PubMed

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome.
Shi X, Geng H, Yu H, Hu X, Wang G, Yang J, Zhao H
Biomed Res Int 2022;2022:7130555. Epub 2022 Jun 26 doi: 10.1155/2022/7130555. PMID: 35795318Free PMC Article
Primary Ciliary Dyskinesia.
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
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics
Am J Respir Crit Care Med 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515Free PMC Article

Recent clinical studies

Etiology

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.
Legendre M, Thouvenin G, Taytard J, Baron M, Le Bourgeois M, Tamalet A, Mani R, Jouvion G, Amselem S, Escudier E, Beydon N
Ann Am Thorac Soc 2022 Oct;19(10):1704-1712. doi: 10.1513/AnnalsATS.202110-1175OC. PMID: 35622418
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-Zahrani HJ, Al-Shamary ZA, Al-Harbi A, Amselem S, Escudier E, Legendre M
J Hum Genet 2022 Jul;67(7):381-386. Epub 2022 Jan 20 doi: 10.1038/s10038-021-01006-9. PMID: 35046476
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.
Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K
Otol Neurotol 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599. PMID: 29135867

Diagnosis

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA
Pediatr Pulmonol 2023 Jul;58(7):1942-1949. Epub 2023 Apr 23 doi: 10.1002/ppul.26414. PMID: 37088965Free PMC Article
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-Zahrani HJ, Al-Shamary ZA, Al-Harbi A, Amselem S, Escudier E, Legendre M
J Hum Genet 2022 Jul;67(7):381-386. Epub 2022 Jan 20 doi: 10.1038/s10038-021-01006-9. PMID: 35046476
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
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
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
Genet Med 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. PMID: 19606528Free PMC Article

Therapy

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A
Hum Mol Genet 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. PMID: 29365104
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.
Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR
Ann Am Thorac Soc 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC. PMID: 27070726Free PMC Article
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article
Rationale of airway clearance.
Clarke SW
Eur Respir J Suppl 1989 Jul;7:599s-603s. PMID: 2679608

Prognosis

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.
Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K
Otol Neurotol 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599. PMID: 29135867
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.
Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR
Ann Am Thorac Soc 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC. PMID: 27070726Free PMC Article
Cardiopulmonary assessment in primary ciliary dyskinesia.
Valerio G, Giallauria F, Montella S, Vaino N, Vigorito C, Mirra V, Santamaria F
Eur J Clin Invest 2012 Jun;42(6):617-22. Epub 2011 Nov 29 doi: 10.1111/j.1365-2362.2011.02626.x. PMID: 22121832

Clinical prediction guides

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Cardiopulmonary assessment in primary ciliary dyskinesia.
Valerio G, Giallauria F, Montella S, Vaino N, Vigorito C, Mirra V, Santamaria F
Eur J Clin Invest 2012 Jun;42(6):617-22. Epub 2011 Nov 29 doi: 10.1111/j.1365-2362.2011.02626.x. PMID: 22121832
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
Genet Med 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. PMID: 19606528Free PMC Article

Recent systematic reviews

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
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
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.
Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V
Ann Am Thorac Soc 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR. PMID: 28481653Free PMC Article

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