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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): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of metabolism/homeostasis
- Elevated sweat chloride
Abnormality of the digestive system
- Abnormality of exocrine pancreas physiology
Abnormality of the respiratory system
- Bronchiectasis
- Chronic bronchitis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChronic obstructive pulmonary disease
- CROGVBronchiectasis
  - Idiopathic bronchiectasis
    - CROGVBronchiectasis with or without elevated sweat chloride 1
    - CROGVBronchiectasis with or without elevated sweat chloride 2
    - CROGVBronchiectasis with or without elevated sweat chloride 3
- CROGVChronic bronchitis
- CROGVCOPD, severe early onset
- CROGVDiffuse panbronchiolitis
- CROGVEmphysema
  - CROGVCompensatory emphysema
  - CROGVCongenital lobar emphysema
  - CROGVEmphysema, hereditary pulmonary
  - CROGVHyperlucent lung
  - CROGVInterstitial emphysema

Abnormal respiratory system physiology
- Abnormal respiratory system morphology
  - Abnormal tracheobronchial morphology
    - Abnormal bronchus morphology
      - Bronchiectasis
        Idiopathic bronchiectasis
        Bronchiectasis with or without elevated sweat chloride 1

Professional guidelines

PubMed

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Kadura S, Raghu G
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Bronchiectasis in children: diagnosis and treatment.

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Recent clinical studies

Etiology

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Diagnosis

Bronchiectasis.

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Diagnosis and management of non-cystic fibrosis bronchiectasis.

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Therapy

Bronchiectasis.

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Airway clearance, mucoactive therapies and pulmonary rehabilitation in bronchiectasis.

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Respirology 2019 Mar;24(3):227-237. Epub 2019 Jan 16 doi: 10.1111/resp.13459. PMID: 30650472

Bronchiectasis.

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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.

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Prognosis

Bronchiectasis.

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Clinical prediction guides

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MedGen

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Bronchiectasis with or without elevated sweat chloride 1(BESC1)

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

Consumer resources

Reviews

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