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CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS

MedGen UID:
1646037
Concept ID:
C4693994
Disease or Syndrome
OMIM®: 603339

Professional guidelines

PubMed

Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523
O'Connor MG, Griffiths A, Iyer NP, Shapiro AJ, Wilson KC, Thomson CC
Ann Am Thorac Soc 2019 Feb;16(2):171-174. doi: 10.1513/AnnalsATS.201810-693CME. PMID: 30433820Free PMC Article
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Recent clinical studies

Etiology

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
Demir Eksi D, Yilmaz E, Basaran AE, Erduran G, Nur B, Mihci E, Karadag B, Bingol A, Alper OM
Indian J Pediatr 2022 Jul;89(7):682-691. Epub 2022 Mar 3 doi: 10.1007/s12098-022-04098-z. PMID: 35239159
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K
Auris Nasus Larynx 2022 Apr;49(2):248-257. Epub 2021 Aug 26 doi: 10.1016/j.anl.2021.08.003. PMID: 34454779
Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523
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

Diagnosis

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
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
Demir Eksi D, Yilmaz E, Basaran AE, Erduran G, Nur B, Mihci E, Karadag B, Bingol A, Alper OM
Indian J Pediatr 2022 Jul;89(7):682-691. Epub 2022 Mar 3 doi: 10.1007/s12098-022-04098-z. PMID: 35239159
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
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

Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J, Frost E, Copeland F, Hogg C, O'Callaghan C, Reading I, Lucas JS; National PCD Service, UK
Chest 2019 May;155(5):1008-1017. Epub 2019 Feb 28 doi: 10.1016/j.chest.2019.01.036. PMID: 30826306
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
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
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
Wolter NE, Dell SD, James AL, Campisi P
Int J Pediatr Otorhinolaryngol 2012 Nov;76(11):1565-8. Epub 2012 Aug 9 doi: 10.1016/j.ijporl.2012.07.011. PMID: 22883987

Prognosis

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
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
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
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article
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

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
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
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K
Auris Nasus Larynx 2022 Apr;49(2):248-257. Epub 2021 Aug 26 doi: 10.1016/j.anl.2021.08.003. PMID: 34454779
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
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

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
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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