Article

Improvement in Non-Pulmonary CFTR-Related Symptoms in a Patient With p.Phe508del/p.Arg117His (7T) Cystic Fibrosis Treated with Ivacaftor

2024-01-31

Abstract excerpt

<h4>Introduction: </h4> Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. Case: We describe a case of an 18-year-old man with p.F508del/p.Arg117His(7T) initially presenting with CRMS/CFSPID. He went on to be diagnosed with pancreatic sufficient CF with minimal lung disease and no bronchi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9746a288-fe6f-53c9-8e2a-ca023a5647d3
DOI: 10.22541/au.170669471.12318004/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Improvement in Non-Pulmonary CFTR-Related Symptoms in a Patient With p.Phe508del/p.Arg117His (7T) Cystic Fibrosis Treated with IvacaftorDOI 10.22541/au.170669471.12318004/v1Read

Improvement in Non-Pulmonary CFTR-Related Symptoms in a Patient With p.Phe508del/p.Arg117His (7T) Cystic Fibrosis Treated with IvacaftorSemantic proximity Read

Cystic fibrosis to CFSPID: Burden of care vs need and rational approach to weaning therapies.Semantic proximity Read

ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.Semantic proximity Read

Cystic fibrosis: a clinical view.Semantic proximity Read

Registry-based study in people with cystic fibrosis and an R117H variant treated with ivacaftor.Semantic proximity Read

Changing paradigms in the treatment of gastrointestinal complications of cystic fibrosis in the era of cystic fibrosis transmembrane conductance regulator modulators.Semantic proximity Read

V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.Semantic proximity Read

Multisystem Imaging Findings of Cystic Fibrosis in Adults: Recognizing Typical and Atypical Patterns of Disease.Semantic proximity Read

An innovative strategy for personalised medicine in a CFSPID case that evolved with time.Semantic proximity Read

Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literatureSemantic proximity Read

Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T.Semantic proximity Read

Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies.Semantic proximity Read