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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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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Recurrent sinusitis

MedGen UID:: 107919
•Concept ID:: C0581354
•: Disease or Syndrome

A recurrent form of sinusitis.

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Recurrent bronchitis

MedGen UID:: 148159
•Concept ID:: C0741796
•: Disease or Syndrome

An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

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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.

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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.

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Neonatal respiratory distress

MedGen UID:: 924182
•Concept ID:: C4281993
•: Finding

Respiratory difficulty as newborn.

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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.

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Chronic rhinitis

MedGen UID:: 3086
•Concept ID:: C0008711
•: Disease or Syndrome

Chronic inflammation of the nasal mucosa.

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Abnormality of head or neck
- Chronic rhinitis
Abnormality of the genitourinary system
- Immotile sperm
- Male infertility
Abnormality of the respiratory system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPrimary ciliary dyskinesia

Phenotypic abnormality
- Abnormality of the respiratory system
  - Abnormal respiratory system physiology
    - Abnormal respiratory motile cilium physiology
      - Abnormal ciliary motility
        Primary ciliary dyskinesia
        Primary ciliary dyskinesia 34

Professional guidelines

PubMed

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279 Free 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

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A
Eur Respir J 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608. PMID: 19948909

See all (15)

Recent clinical studies

Etiology

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

Lung ultrasound in the follow-up of primary ciliary dyskinesia.

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: 30067075 Free PMC Article

Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Nikolic A
Lung 2018 Aug;196(4):383-392. Epub 2018 May 12 doi: 10.1007/s00408-018-0121-y. PMID: 29754320

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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

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

Lung ultrasound in the follow-up of primary ciliary dyskinesia.

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

See all (62)

Therapy

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

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

See all (16)

Prognosis

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

Lung ultrasound in the follow-up of primary ciliary dyskinesia.

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.

See all (33)

Clinical prediction guides

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

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: 35984413 Free PMC Article

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.

See all (39)

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: 28859703 Free PMC Article

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Primary ciliary dyskinesia 34(CILD34)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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