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Ciliary dyskinesia, primary, 42(CILD42)

MedGen UID:: 1684665
•Concept ID:: C5231464
•: Disease or Syndrome

Synonym:	CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS

Gene (location): Gene(s) directly associated with this condition or phenotype.	MCIDAS (5q11.2)

Monarch Initiative:	MONDO:0032872
OMIM®:	618695

Definition

Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). [from OMIM]

Clinical features

From HPO

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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Chronic obstructive pulmonary disease

MedGen UID:: 9818
•Concept ID:: C0024117
•: Disease or Syndrome

Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).

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Respiratory insufficiency

MedGen UID:: 11197
•Concept ID:: C0035229
•: Pathologic Function

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

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Recurrent sinusitis

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

A recurrent form of sinusitis.

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Reduced forced vital capacity

MedGen UID:: 337630
•Concept ID:: C1846678
•: Finding

An abnormal reduction in the amount of air a person can expel following maximal inspiration.

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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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Pneumonia

MedGen UID:: 10813
•Concept ID:: C0032285
•: Disease or Syndrome

Inflammation of any part of the lung parenchyma.

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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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Nasal polyposis

MedGen UID:: 6524
•Concept ID:: C0027430
•: Anatomical Abnormality

Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.

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Abnormality of head or neck
- Chronic rhinitis
- Nasal polyposis
Abnormality of the immune system
- Pneumonia
Abnormality of the respiratory system

Professional guidelines

PubMed

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H
Eur Respir J 2024 Aug;64(2) Epub 2024 Aug 8 doi: 10.1183/13993003.01769-2023. PMID: 38871375 Free PMC Article

Pulmonary functions, nasal symptoms, and quality of life in patients with primary ciliary dyskinesia (PCD).

Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904

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

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Recent clinical studies

Etiology

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.

Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392 Free PMC Article

Intermittent prophylactic antibiotics for bronchiectasis.

Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761 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

Hearing loss in children with primary ciliary dyskinesia.

Kreicher KL, Schopper HK, Naik AN, Hatch JL, Meyer TA
Int J Pediatr Otorhinolaryngol 2018 Jan;104:161-165. Epub 2017 Nov 11 doi: 10.1016/j.ijporl.2017.11.005. PMID: 29287859

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Diagnosis

Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study.

Pieters ALP, van der Veer T, Meerburg JJ, Andrinopoulou ER, van der Eerden MM, Ciet P, Aliberti S, Burgel PR, Crichton ML, Shoemark A, Goeminne PC, Shteinberg M, Loebinger MR, Haworth CS, Blasi F, Tiddens HAWM, Caudri D, Chalmers JD
Am J Respir Crit Care Med 2024 Jul 1;210(1):87-96. doi: 10.1164/rccm.202311-2109OC. PMID: 38635862

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

Fissure adjacent partial lobe atelectasis in primary ciliary dyskinesia.

Fabri L, Shanthikumar S, Tadd K, Morgan L, Schultz A, Robinson P
J Paediatr Child Health 2022 Apr;58(4):683-686. Epub 2021 Nov 16 doi: 10.1111/jpc.15818. PMID: 34786797

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

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038 Free PMC Article

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