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Bronchiectasis with or without elevated sweat chloride 1(BESC1)

MedGen UID:
440868
•Concept ID:
C2749757
•
Disease or Syndrome
Synonyms: BESC1; Cystic Fibrosis-Like Syndrome; Non-Classic Cystic Fibrosis-Like Syndrome
 
Genes (locations): CFTR (7q31.2); SCNN1B (16p12.2)
 
Monarch Initiative: MONDO:0008887
OMIM®: 211400

Definition

Bronchiectasis with or without elevated sweat chloride-1 (BESC1) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent respiratory tract infections. Severity is variable, and some patients may be identified in adulthood and have normal respiratory function (Sheridan et al., 2005, Fajac et al., 2008). Genetic Heterogeneity of Bronchiectasis with or without Elevated Sweat Chloride Bronchiectasis with or without elevated sweat chloride-2 (BESC2; 613021) is caused by mutation in the gene encoding the alpha subunit of the epithelial sodium channel (SCNN1A; 600228) on chromosome 12p13, and BESC3 (613071) is caused by mutation in the gene encoding the gamma subunit (SCNN1G; 600761) on chromosome 16p12. Bronchiectasis and elevated sweat chloride associated with pancreatic exocrine dysfunction and infertility are also features of cystic fibrosis (CF; 219700), which is caused by mutation in the CFTR gene (602421). [from OMIM]

Clinical features

From HPO
Abnormality of exocrine pancreas physiology
MedGen UID:
866753
•Concept ID:
C4021103
•
Pathologic Function
A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
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
Chronic bronchitis
MedGen UID:
3084
•Concept ID:
C0008677
•
Disease or Syndrome
Chronic inflammation of the bronchi.
See: Feature record | Search on this feature
Elevated sweat chloride
MedGen UID:
347278
•Concept ID:
C1856646
•
Finding
An increased concentration of chloride in the sweat.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The Epidemiology and Pathogenesis and Treatment of Pseudomonas aeruginosa Infections: An Update.
Reynolds D, Kollef M
Drugs 2021 Dec;81(18):2117-2131. Epub 2021 Nov 7 doi: 10.1007/s40265-021-01635-6. PMID: 34743315Free PMC Article
Rheumatoid arthritis-interstitial lung disease: manifestations and current concepts in pathogenesis and management.
Kadura S, Raghu G
Eur Respir Rev 2021 Jun 30;30(160) Epub 2021 Jun 23 doi: 10.1183/16000617.0011-2021. PMID: 34168062Free PMC Article
Bronchiectasis in children: diagnosis and treatment.
Chang AB, Bush A, Grimwood K
Lancet 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. PMID: 30215382

Recent clinical studies

Etiology

Endotypes in bronchiectasis: moving towards precision medicine. A narrative review.
Martins M, Keir HR, Chalmers JD
Pulmonology 2023 Nov-Dec;29(6):505-517. Epub 2023 Apr 6 doi: 10.1016/j.pulmoe.2023.03.004. PMID: 37030997
The Pathogenesis of Bronchiectasis.
Metersky ML, Barker AF
Clin Chest Med 2022 Mar;43(1):35-46. doi: 10.1016/j.ccm.2021.11.003. PMID: 35236559
Bronchiectasis in children: diagnosis and treatment.
Chang AB, Bush A, Grimwood K
Lancet 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. PMID: 30215382
European Respiratory Society guidelines for the management of adult bronchiectasis.
Polverino E, Goeminne PC, McDonnell MJ, Aliberti S, Marshall SE, Loebinger MR, Murris M, Cantón R, Torres A, Dimakou K, De Soyza A, Hill AT, Haworth CS, Vendrell M, Ringshausen FC, Subotic D, Wilson R, Vilaró J, Stallberg B, Welte T, Rohde G, Blasi F, Elborn S, Almagro M, Timothy A, Ruddy T, Tonia T, Rigau D, Chalmers JD
Eur Respir J 2017 Sep;50(3) Epub 2017 Sep 9 doi: 10.1183/13993003.00629-2017. PMID: 28889110
British Thoracic Society guideline for non-CF bronchiectasis.
Pasteur MC, Bilton D, Hill AT; British Thoracic Society Bronchiectasis non-CF Guideline Group
Thorax 2010 Jul;65 Suppl 1:i1-58. doi: 10.1136/thx.2010.136119. PMID: 20627931

Diagnosis

Bronchiectasis.
Barbosa M, Chalmers JD
Presse Med 2023 Sep;52(3):104174. Epub 2023 Sep 30 doi: 10.1016/j.lpm.2023.104174. PMID: 37778637
Endotypes in bronchiectasis: moving towards precision medicine. A narrative review.
Martins M, Keir HR, Chalmers JD
Pulmonology 2023 Nov-Dec;29(6):505-517. Epub 2023 Apr 6 doi: 10.1016/j.pulmoe.2023.03.004. PMID: 37030997
Non-CF bronchiectasis: Orphan disease no longer.
Imam JS, Duarte AG
Respir Med 2020 May;166:105940. Epub 2020 Mar 27 doi: 10.1016/j.rmed.2020.105940. PMID: 32250872
Bronchiectasis.
Chalmers JD, Chang AB, Chotirmall SH, Dhar R, McShane PJ
Nat Rev Dis Primers 2018 Nov 15;4(1):45. doi: 10.1038/s41572-018-0042-3. PMID: 30442957
Bronchiectasis in children: diagnosis and treatment.
Chang AB, Bush A, Grimwood K
Lancet 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. PMID: 30215382

Therapy

Bronchiectasis.
Barbosa M, Chalmers JD
Presse Med 2023 Sep;52(3):104174. Epub 2023 Sep 30 doi: 10.1016/j.lpm.2023.104174. PMID: 37778637
Non-CF bronchiectasis: Orphan disease no longer.
Imam JS, Duarte AG
Respir Med 2020 May;166:105940. Epub 2020 Mar 27 doi: 10.1016/j.rmed.2020.105940. PMID: 32250872
Bronchiectasis in children: diagnosis and treatment.
Chang AB, Bush A, Grimwood K
Lancet 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. PMID: 30215382
European Respiratory Society guidelines for the management of adult bronchiectasis.
Polverino E, Goeminne PC, McDonnell MJ, Aliberti S, Marshall SE, Loebinger MR, Murris M, Cantón R, Torres A, Dimakou K, De Soyza A, Hill AT, Haworth CS, Vendrell M, Ringshausen FC, Subotic D, Wilson R, Vilaró J, Stallberg B, Welte T, Rohde G, Blasi F, Elborn S, Almagro M, Timothy A, Ruddy T, Tonia T, Rigau D, Chalmers JD
Eur Respir J 2017 Sep;50(3) Epub 2017 Sep 9 doi: 10.1183/13993003.00629-2017. PMID: 28889110
Bronchiectasis.
Magis-Escurra C, Reijers MH
BMJ Clin Evid 2015 Feb 25;2015 PMID: 25715965Free PMC Article

Prognosis

Exacerbations of bronchiectasis.
De Angelis A, Johnson ED, Sutharsan S, Aliberti S
Eur Respir Rev 2024 Jul;33(173) Epub 2024 Jul 24 doi: 10.1183/16000617.0085-2024. PMID: 39048130Free PMC Article
Biomarkers in bronchiectasis.
Johnson E, Long MB, Chalmers JD
Eur Respir Rev 2024 Jul;33(173) Epub 2024 Jul 3 doi: 10.1183/16000617.0234-2023. PMID: 38960612Free PMC Article
Bronchiectasis.
Barbosa M, Chalmers JD
Presse Med 2023 Sep;52(3):104174. Epub 2023 Sep 30 doi: 10.1016/j.lpm.2023.104174. PMID: 37778637
Endotypes in bronchiectasis: moving towards precision medicine. A narrative review.
Martins M, Keir HR, Chalmers JD
Pulmonology 2023 Nov-Dec;29(6):505-517. Epub 2023 Apr 6 doi: 10.1016/j.pulmoe.2023.03.004. PMID: 37030997
Geographic variation in the aetiology, epidemiology and microbiology of bronchiectasis.
Chandrasekaran R, Mac Aogáin M, Chalmers JD, Elborn SJ, Chotirmall SH
BMC Pulm Med 2018 May 22;18(1):83. doi: 10.1186/s12890-018-0638-0. PMID: 29788932Free PMC Article

Clinical prediction guides

Endotypes in bronchiectasis: moving towards precision medicine. A narrative review.
Martins M, Keir HR, Chalmers JD
Pulmonology 2023 Nov-Dec;29(6):505-517. Epub 2023 Apr 6 doi: 10.1016/j.pulmoe.2023.03.004. PMID: 37030997
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium, Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:, Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM
Eur Respir J 2022 Nov;60(5) Epub 2022 Nov 17 doi: 10.1183/13993003.00176-2022. PMID: 35728977
Advances in bronchiectasis: endotyping, genetics, microbiome, and disease heterogeneity.
Flume PA, Chalmers JD, Olivier KN
Lancet 2018 Sep 8;392(10150):880-890. doi: 10.1016/S0140-6736(18)31767-7. PMID: 30215383Free PMC Article
European Respiratory Society guidelines for the management of adult bronchiectasis.
Polverino E, Goeminne PC, McDonnell MJ, Aliberti S, Marshall SE, Loebinger MR, Murris M, Cantón R, Torres A, Dimakou K, De Soyza A, Hill AT, Haworth CS, Vendrell M, Ringshausen FC, Subotic D, Wilson R, Vilaró J, Stallberg B, Welte T, Rohde G, Blasi F, Elborn S, Almagro M, Timothy A, Ruddy T, Tonia T, Rigau D, Chalmers JD
Eur Respir J 2017 Sep;50(3) Epub 2017 Sep 9 doi: 10.1183/13993003.00629-2017. PMID: 28889110
The bronchiectasis severity index. An international derivation and validation study.
Chalmers JD, Goeminne P, Aliberti S, McDonnell MJ, Lonni S, Davidson J, Poppelwell L, Salih W, Pesci A, Dupont LJ, Fardon TC, De Soyza A, Hill AT
Am J Respir Crit Care Med 2014 Mar 1;189(5):576-85. doi: 10.1164/rccm.201309-1575OC. PMID: 24328736Free PMC Article

Recent systematic reviews

The effectiveness of the active cycle of breathing technique in patients with chronic respiratory diseases: A systematic review.
Zisi D, Chryssanthopoulos C, Nanas S, Philippou A
Heart Lung 2022 May-Jun;53:89-98. Epub 2022 Feb 27 doi: 10.1016/j.hrtlng.2022.02.006. PMID: 35235877
Telerehabilitation for chronic respiratory disease.
Cox NS, Dal Corso S, Hansen H, McDonald CF, Hill CJ, Zanaboni P, Alison JA, O'Halloran P, Macdonald H, Holland AE
Cochrane Database Syst Rev 2021 Jan 29;1(1):CD013040. doi: 10.1002/14651858.CD013040.pub2. PMID: 33511633Free PMC Article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics
Am J Respir Crit Care Med 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515Free PMC Article
Bronchiectasis: new therapies and new perspectives.
Chalmers JD, Chotirmall SH
Lancet Respir Med 2018 Sep;6(9):715-726. Epub 2018 Feb 23 doi: 10.1016/S2213-2600(18)30053-5. PMID: 29478908
Bronchiectasis.
Magis-Escurra C, Reijers MH
BMJ Clin Evid 2015 Feb 25;2015 PMID: 25715965Free PMC Article

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