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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

Cystic fibrosis: Epidemiology, clinical manifestations, diagnosis and treatment.
Diab Cáceres L, Zamarrón de Lucas E
Med Clin (Barc) 2023 Nov 10;161(9):389-396. Epub 2023 Aug 7 doi: 10.1016/j.medcli.2023.06.006. PMID: 37558605
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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

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.
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
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
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

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
Diagnosis and management of non-cystic fibrosis bronchiectasis.
Macfarlane L, Kumar K, Scoones T, Jones A, Loebinger MR, Lord R
Clin Med (Lond) 2021 Nov;21(6):e571-e577. doi: 10.7861/clinmed.2021-0651. PMID: 34862215Free PMC Article
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
Bronchiectasis update.
O'Donnell AE
Curr Opin Infect Dis 2018 Apr;31(2):194-198. doi: 10.1097/QCO.0000000000000445. PMID: 29489526

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
Airway clearance, mucoactive therapies and pulmonary rehabilitation in bronchiectasis.
O'Neill K, O'Donnell AE, Bradley JM
Respirology 2019 Mar;24(3):227-237. Epub 2019 Jan 16 doi: 10.1111/resp.13459. PMID: 30650472
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
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

Prognosis

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
Triple Therapy for Cystic Fibrosis Phe508del-Gating and -Residual Function Genotypes.
Barry PJ, Mall MA, Álvarez A, Colombo C, de Winter-de Groot KM, Fajac I, McBennett KA, McKone EF, Ramsey BW, Sutharsan S, Taylor-Cousar JL, Tullis E, Ahluwalia N, Jun LS, Moskowitz SM, Prieto-Centurion V, Tian S, Waltz D, Xuan F, Zhang Y, Rowe SM, Polineni D; VX18-445-104 Study Group
N Engl J Med 2021 Aug 26;385(9):815-825. doi: 10.1056/NEJMoa2100665. PMID: 34437784Free PMC Article
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
Characterization of the "Frequent Exacerbator Phenotype" in Bronchiectasis.
Chalmers JD, Aliberti S, Filonenko A, Shteinberg M, Goeminne PC, Hill AT, Fardon TC, Obradovic D, Gerlinger C, Sotgiu G, Operschall E, Rutherford RM, Dimakou K, Polverino E, De Soyza A, McDonnell MJ
Am J Respir Crit Care Med 2018 Jun 1;197(11):1410-1420. doi: 10.1164/rccm.201711-2202OC. PMID: 29357265

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
A Double-Blind Randomized Placebo-Controlled Phase 3 Trial of Tobramycin Inhalation Solution in Adults With Bronchiectasis With Pseudomonas aeruginosa Infection.
Guan WJ, Xu JF, Luo H, Xu XX, Song YL, Ma WL, Liang ZA, Liu XD, Zhang GJ, Zhang XJ, Li RK, Zhu SY, Zhang YJ, Cai XJ, Wei LP, Tian DB, Zhao H, Chen PY, Qu JM, Zhong NS; TORNASOL Study Group
Chest 2023 Jan;163(1):64-76. Epub 2022 Jul 19 doi: 10.1016/j.chest.2022.07.007. PMID: 35863486
Triple Therapy for Cystic Fibrosis Phe508del-Gating and -Residual Function Genotypes.
Barry PJ, Mall MA, Álvarez A, Colombo C, de Winter-de Groot KM, Fajac I, McBennett KA, McKone EF, Ramsey BW, Sutharsan S, Taylor-Cousar JL, Tullis E, Ahluwalia N, Jun LS, Moskowitz SM, Prieto-Centurion V, Tian S, Waltz D, Xuan F, Zhang Y, Rowe SM, Polineni D; VX18-445-104 Study Group
N Engl J Med 2021 Aug 26;385(9):815-825. doi: 10.1056/NEJMoa2100665. PMID: 34437784Free PMC Article
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

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
Bronchial artery embolization in hemoptysis: a systematic review.
Panda A, Bhalla AS, Goyal A
Diagn Interv Radiol 2017 Jul-Aug;23(4):307-317. doi: 10.5152/dir.2017.16454. PMID: 28703105Free PMC Article
Minimal clinically important difference for change in 6-minute walk test distance of adults with pathology: a systematic review.
Bohannon RW, Crouch R
J Eval Clin Pract 2017 Apr;23(2):377-381. Epub 2016 Sep 4 doi: 10.1111/jep.12629. PMID: 27592691
Bronchiectasis.
Magis-Escurra C, Reijers MH
BMJ Clin Evid 2015 Feb 25;2015 PMID: 25715965Free PMC Article

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