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Cystic disease of lung(PCLUD)

MedGen UID:
640840
Concept ID:
C0555214
Disease or Syndrome
Synonym: PCLUD
SNOMED CT: Multiple cysts of lung (275505006); Multiple lung cysts (275505006)
 
Gene (location): CCR2 (3p21.31)
 
HPO: HP:0005948
Monarch Initiative: MONDO:0009060
OMIM®: 219600

Definition

Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024). [from OMIM]

Clinical features

From HPO
Cystic disease of lung
MedGen UID:
640840
Concept ID:
C0555214
Disease or Syndrome
Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024).
Spontaneous neonatal pneumothorax
MedGen UID:
384036
Concept ID:
C1857021
Finding
Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.

Conditions with this feature

Cystic disease of lung
MedGen UID:
640840
Concept ID:
C0555214
Disease or Syndrome
Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024).
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MedGen UID:
1778117
Concept ID:
C5543623
Disease or Syndrome
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021). For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263).
Birt-Hogg-Dube syndrome 1
MedGen UID:
1051978
Concept ID:
CN375946
Disease or Syndrome
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

Professional guidelines

PubMed

Park S, Lee EJ
Korean J Intern Med 2017 Mar;32(2):229-238. Epub 2017 Feb 28 doi: 10.3904/kjim.2016.242. PMID: 28264540Free PMC Article
Ross KR, Chmiel JF, Konstan MW
Paediatr Drugs 2009;11(2):101-13. doi: 10.2165/00148581-200911020-00002. PMID: 19301932Free PMC Article

Recent clinical studies

Etiology

Valente T, Guarino S, Lassandro G, Picchi SG, Romano F, Massimo C, Rea G, Lieto R, Nicola R, Lassandro F
Clin Radiol 2022 May;77(5):e337-e345. Epub 2022 Feb 26 doi: 10.1016/j.crad.2022.01.044. PMID: 35227505
Green DB, Restrepo CS, Legasto AC, Bang TJ, Oh AS, Vargas D
Curr Probl Diagn Radiol 2022 Jul-Aug;51(4):648-658. Epub 2021 Feb 7 doi: 10.1067/j.cpradiol.2021.02.003. PMID: 33618900
Obaidat B, Yazdani D, Wikenheiser-Brokamp KA, Gupta N
Respir Care 2020 Jan;65(1):111-126. Epub 2019 Oct 15 doi: 10.4187/respcare.07117. PMID: 31615921
Park S, Lee EJ
Korean J Intern Med 2017 Mar;32(2):229-238. Epub 2017 Feb 28 doi: 10.3904/kjim.2016.242. PMID: 28264540Free PMC Article
Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX
Am J Respir Crit Care Med 2015 Jul 1;192(1):17-29. doi: 10.1164/rccm.201411-2096CI. PMID: 25906201Free PMC Article

Diagnosis

Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM
Thorax 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. PMID: 38182428
Koslow M, Lynch DA, Cool CD, Groshong SD, Downey GP
Immunol Allergy Clin North Am 2023 May;43(2):359-377. doi: 10.1016/j.iac.2023.01.003. PMID: 37055093Free PMC Article
Obaidat B, Yazdani D, Wikenheiser-Brokamp KA, Gupta N
Respir Care 2020 Jan;65(1):111-126. Epub 2019 Oct 15 doi: 10.4187/respcare.07117. PMID: 31615921
Lee KC, Kang EY, Yong HS, Kim C, Lee KY, Hwang SH, Oh YW
Korean J Radiol 2019 Sep;20(9):1368-1380. doi: 10.3348/kjr.2019.0057. PMID: 31464115Free PMC Article
Clarke BE
J Clin Pathol 2013 Oct;66(10):904-8. Epub 2013 Jun 1 doi: 10.1136/jclinpath-2012-201297. PMID: 23729207

Therapy

Brenna CT, Khan S, Djaiani G, Buckey JC Jr, Katznelson R
Diving Hyperb Med 2022 Sep 30;52(3):197-207. doi: 10.28920/dhm52.3.197-207. PMID: 36100931Free PMC Article
Green DB, Restrepo CS, Legasto AC, Bang TJ, Oh AS, Vargas D
Curr Probl Diagn Radiol 2022 Jul-Aug;51(4):648-658. Epub 2021 Feb 7 doi: 10.1067/j.cpradiol.2021.02.003. PMID: 33618900
Obaidat B, Yazdani D, Wikenheiser-Brokamp KA, Gupta N
Respir Care 2020 Jan;65(1):111-126. Epub 2019 Oct 15 doi: 10.4187/respcare.07117. PMID: 31615921
Richards JC, Lynch DA, Chung JH
Clin Chest Med 2015 Jun;36(2):299-312, ix. Epub 2015 Apr 2 doi: 10.1016/j.ccm.2015.02.011. PMID: 26024606
Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX
Am J Respir Crit Care Med 2015 Jun 15;191(12):1354-66. doi: 10.1164/rccm.201411-2094CI. PMID: 25906089Free PMC Article

Prognosis

Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM
Thorax 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. PMID: 38182428
Ershadi R, Rafieian S, Salehi M, Kazemizadeh H, Amini H, Sohrabi M, Samimiat A, Sharafi Y, Dashtkoohi M, Vahedi M
J Cardiothorac Surg 2023 Jul 4;18(1):211. doi: 10.1186/s13019-023-02331-0. PMID: 37403072Free PMC Article
Ye J, Peng W, Chen D, Qiu Y, Lan N, Huang T, Ou Y, Li M, Huang W
Clin Radiol 2023 Jan;78(1):24-32. Epub 2022 Sep 15 doi: 10.1016/j.crad.2022.08.130. PMID: 36116968
Riveiro-Blanco V, Pou-Álvarez C, Ferreiro L, Toubes ME, Quiroga-Martínez J, Suárez-Antelo J, García-Prim JM, Rivo-Vázquez JE, Castro-Calvo R, González-Barcala FJ, Gude F, Valdés L
Pulmonology 2022 Jul-Aug;28(4):276-283. Epub 2020 Jun 26 doi: 10.1016/j.pulmoe.2020.06.003. PMID: 32601016
Ryu JH, Tian X, Baqir M, Xu K
Front Med 2013 Sep;7(3):316-27. Epub 2013 May 11 doi: 10.1007/s11684-013-0269-z. PMID: 23666611

Clinical prediction guides

Van Ballaer V, Dubbeldam A, Muscogiuri E, Cockmartin L, Bosmans H, Coudyzer W, Coolen J, de Wever W
Eur Radiol 2024 Mar;34(3):1895-1904. Epub 2023 Aug 31 doi: 10.1007/s00330-023-10174-5. PMID: 37650968
Ershadi R, Rafieian S, Salehi M, Kazemizadeh H, Amini H, Sohrabi M, Samimiat A, Sharafi Y, Dashtkoohi M, Vahedi M
J Cardiothorac Surg 2023 Jul 4;18(1):211. doi: 10.1186/s13019-023-02331-0. PMID: 37403072Free PMC Article
Riveiro-Blanco V, Pou-Álvarez C, Ferreiro L, Toubes ME, Quiroga-Martínez J, Suárez-Antelo J, García-Prim JM, Rivo-Vázquez JE, Castro-Calvo R, González-Barcala FJ, Gude F, Valdés L
Pulmonology 2022 Jul-Aug;28(4):276-283. Epub 2020 Jun 26 doi: 10.1016/j.pulmoe.2020.06.003. PMID: 32601016
Lechtman S, Debray MP, Crestani B, Bancal C, Hourseau M, Dossier A, Alexandra JF, Chauveheid MP, Papo T, Sacre K
Joint Bone Spine 2017 May;84(3):317-321. Epub 2016 Sep 19 doi: 10.1016/j.jbspin.2016.05.019. PMID: 27659405
Ryu JH, Tian X, Baqir M, Xu K
Front Med 2013 Sep;7(3):316-27. Epub 2013 May 11 doi: 10.1007/s11684-013-0269-z. PMID: 23666611

Recent systematic reviews

Nick JA, Pohl K, Martiniano SL
Curr Opin Pulm Med 2016 Nov;22(6):629-36. doi: 10.1097/MCP.0000000000000317. PMID: 27583673

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