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Primary ciliary dyskinesia 34(CILD34)

MedGen UID:
934689
•Concept ID:
C4310722
•
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS
 
Gene (location): DNAJB13 (11q13.4)
 
Monarch Initiative: MONDO:0014909
OMIM®: 617091

Definition

Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
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Immotile sperm
MedGen UID:
701339
•Concept ID:
C1278278
•
Finding
A lack of mobility of ejaculated sperm.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent sinusitis
MedGen UID:
107919
•Concept ID:
C0581354
•
Disease or Syndrome
A recurrent form of sinusitis.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Absent central microtubular pair morphology of respiratory motile cilia
MedGen UID:
868583
•Concept ID:
C4022982
•
Finding
Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
See: Feature record | Search on this feature
Neonatal respiratory distress
MedGen UID:
924182
•Concept ID:
C4281993
•
Finding
Respiratory difficulty as newborn.
See: Feature record | Search on this feature
Reduced respiratory ciliary beating frequency
MedGen UID:
1757199
•Concept ID:
C5421649
•
Finding
An abnormal reduction in the number of beats per unit time of the respiratory cilia.
See: Feature record | Search on this feature
Chronic rhinitis
MedGen UID:
3086
•Concept ID:
C0008711
•
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
See: Feature record | Search on this feature
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Term Hierarchy

Professional guidelines

PubMed

Lung ultrasound in the follow-up of primary ciliary dyskinesia.
Guitart C, Del Rey Hurtado de Mendoza B, Camprubi Camprubi M, Rodriguez-Fanjul J
J Matern Fetal Neonatal Med 2021 Apr;34(8):1344-1346. Epub 2019 Jul 2 doi: 10.1080/14767058.2019.1636027. PMID: 31232129
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
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
Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies.
Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó
Arch Bronconeumol 2013 Mar;49(3):99-104. Epub 2012 Dec 23 doi: 10.1016/j.arbres.2012.10.007. PMID: 23265970

Recent clinical studies

Etiology

Underlying causes and outcomes of recurrent pneumonia in hospitalized children.
Mei M, Dai D, Guo Z, Zhang C, Liu J, Qi Y, Wang X, Wang L, Qian L
Pediatr Pulmonol 2023 Jun;58(6):1674-1682. Epub 2023 Mar 21 doi: 10.1002/ppul.26374. PMID: 36919525
Comparison of the Lung Clearance Index in Preschool Children With Primary Ciliary Dyskinesia and Cystic Fibrosis.
Roehmel JF, Doerfler FJ, Koerner-Rettberg C, Brinkmann F, Schlegtendal A, Wetzke M, Rudolf I, Helms S, Große-Onnebrink J, Yu Y, Nuesslein T, Wojsyk-Banaszak I, Becker S, Eickmeier O, Sommerburg O, Omran H, Stahl M, Mall MA
Chest 2022 Sep;162(3):534-542. Epub 2022 Mar 7 doi: 10.1016/j.chest.2022.02.052. PMID: 35271842
Lung ultrasound in the follow-up of primary ciliary dyskinesia.
Guitart C, Del Rey Hurtado de Mendoza B, Camprubi Camprubi M, Rodriguez-Fanjul J
J Matern Fetal Neonatal Med 2021 Apr;34(8):1344-1346. Epub 2019 Jul 2 doi: 10.1080/14767058.2019.1636027. PMID: 31232129
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
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

Diagnosis

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia.
Keiser NW, Cant E, Sitaraman S, Shoemark A, Limberis MP
Hum Gene Ther 2023 Sep;34(17-18):821-835. doi: 10.1089/hum.2023.102. PMID: 37624733
Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.
Rezaei M, Soheili A, Ziai SA, Fakharian A, Toreyhi H, Pourabdollah M, Ghorbani J, Karimi-Galougahi M, Mahdaviani SA, Hasanzad M, Eslaminejad A, Ghaffaripour HA, Mahmoudian S, Rodafshani Z, Mirenayat MS, Varahram M, Marjani M, Tabarsi P, Mansouri D, Jamaati HR, Velayati AA
Sci Rep 2022 Feb 11;12(1):2375. doi: 10.1038/s41598-022-06370-w. PMID: 35149751Free PMC Article
CON: Primary Ciliary Dyskinesia diagnosis: Genes are all you need!
Hogg C, Bush A
Paediatr Respir Rev 2021 Mar;37:34-36. Epub 2020 Apr 14 doi: 10.1016/j.prrv.2020.04.004. PMID: 32439130
Mucociliary clearance: pathophysiological aspects.
Munkholm M, Mortensen J
Clin Physiol Funct Imaging 2014 May;34(3):171-7. Epub 2013 Sep 30 doi: 10.1111/cpf.12085. PMID: 24119105

Therapy

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Azithromycin is the answer in paediatric respiratory medicine, but what was the question?
Bush A
Paediatr Respir Rev 2020 Apr;34:67-74. Epub 2019 Aug 16 doi: 10.1016/j.prrv.2019.07.002. PMID: 31629643
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
Mucociliary clearance: pathophysiological aspects.
Munkholm M, Mortensen J
Clin Physiol Funct Imaging 2014 May;34(3):171-7. Epub 2013 Sep 30 doi: 10.1111/cpf.12085. PMID: 24119105
Primary ciliary dyskinesia: a review.
Carlén B, Stenram U
Ultrastruct Pathol 2005 May-Aug;29(3-4):217-20. doi: 10.1080/01913120590951220. PMID: 16036877

Prognosis

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Airway Inflammation in Children with Primary Ciliary Dyskinesia.
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
Lung ultrasound in the follow-up of primary ciliary dyskinesia.
Guitart C, Del Rey Hurtado de Mendoza B, Camprubi Camprubi M, Rodriguez-Fanjul J
J Matern Fetal Neonatal Med 2021 Apr;34(8):1344-1346. Epub 2019 Jul 2 doi: 10.1080/14767058.2019.1636027. PMID: 31232129
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
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

Clinical prediction guides

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Airway Inflammation in Children with Primary Ciliary Dyskinesia.
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
Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia.
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
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
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

Recent systematic reviews

Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review.
Møller ME, Alanin MC, Grønhøj C, Aanæs K, Høiby N, von Buchwald C
Am J Rhinol Allergy 2017 Sep 1;31(5):293-298. doi: 10.2500/ajra.2017.31.4461. PMID: 28859703Free PMC Article

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