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Updated: Aug 7, 2026
07:44
Endoscopic Ultrasound-Guided Biliary Drainage: Endoscopic Ultrasound-Guided Hepaticogastrostomy in Malignant Biliary Obstruction
Published on: March 25, 2022
[Bronchiectasis with elevated liver enzymes and pancreatic exocrine insufficiency]
1Department of Pulmonary and Critical Care Medicine, The State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Summary
Cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD) is a genetic condition involving CFTR dysfunction. Recognizing CFTR-RD in patients with atypical cystic fibrosis symptoms is crucial for accurate diagnosis and treatment.
Area of Science:
- Genetics
- Pulmonology
- Gastroenterology
Background:
- Cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD) is increasingly identified due to genetic testing.
- Patients with CFTR-RD exhibit CFTR dysfunction but do not meet cystic fibrosis diagnostic criteria.
- CFTR-RD presents with diverse clinical manifestations across multiple organ systems, complicating diagnosis.
Purpose of the Study:
- To report a case of CFTR-RD in an adolescent male.
- To highlight the diagnostic challenges and management strategies for CFTR-RD.
- To emphasize the importance of recognizing CFTR-RD in atypical presentations.
Main Methods:
- Case report of an adolescent male with bronchiectasis, elevated liver enzymes, and pancreatic exocrine insufficiency.
- Genetic analysis revealing a maternally inherited heterozygous intronic CFTR variant.
- Clinical evaluation and laboratory findings to support CFTR-RD diagnosis.
Main Results:
- The patient presented with multisystem involvement suggestive of CFTR-RD.
- Genetic testing identified a specific CFTR variant.
- Diagnosis of CFTR-RD was suspected despite not meeting cystic fibrosis criteria.
Conclusions:
- CFTR-RD diagnosis requires consideration in patients with unexplained multisystem disorders.
- Multidisciplinary evaluation is essential for accurate diagnosis and individualized treatment of CFTR-RD.
- Early recognition and management of CFTR-RD can improve patient outcomes.
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