Persistent Cough

Paul R. Standley

doi:10.1007/978-3-031-98353-5_31

Persistent Cough

Paul R. Standley

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

The case study explores the diagnostic process, clinical features, and management of cystic fibrosis (CF) through the experience of a 13-month-old boy presenting with a persistent cough, poor growth, and diarrhea. Initial assessments suggest possible chronic respiratory or gastrointestinal issues. A sweat chloride test and genetic testing confirm a diagnosis of CF due to a ΔF508 mutation, the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The case addresses CF’s systemic impact on respiratory, gastrointestinal, reproductive, and endocrine systems and highlights diagnostic challenges, especially in culturally diverse communities. Treatment approaches, including CFTR modulators and supportive therapies, are discussed alongside social determinants of health affecting access to care. The case discusses the importance of genetic counseling and early intervention for improved patient outcomes.

Original language	English (US)
Title of host publication	Biomedical Science and Clinical Foundations
Subtitle of host publication	A Case-Based Approach
Publisher	Springer Science+Business Media
Pages	431-446
Number of pages	16
ISBN (Electronic)	9783031983535
ISBN (Print)	9783031983528
DOIs	https://doi.org/10.1007/978-3-031-98353-5_31
State	Published - Jan 1 2025
Externally published	Yes

Keywords

CFTR modulators
CFTR mutations
Chronic cough
Cystic fibrosis (CF)
Genetic counseling
Pancreatic insufficiency
Pediatric diagnosis
Respiratory complications
Sweat chloride test
ΔF508 mutation

ASJC Scopus subject areas

General Medicine

Access to Document

10.1007/978-3-031-98353-5_31

Cite this

@inbook{caa644119d8a440fa68d447b8c35cfa4,

title = "Persistent Cough",

abstract = "The case study explores the diagnostic process, clinical features, and management of cystic fibrosis (CF) through the experience of a 13-month-old boy presenting with a persistent cough, poor growth, and diarrhea. Initial assessments suggest possible chronic respiratory or gastrointestinal issues. A sweat chloride test and genetic testing confirm a diagnosis of CF due to a ΔF508 mutation, the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The case addresses CF{\textquoteright}s systemic impact on respiratory, gastrointestinal, reproductive, and endocrine systems and highlights diagnostic challenges, especially in culturally diverse communities. Treatment approaches, including CFTR modulators and supportive therapies, are discussed alongside social determinants of health affecting access to care. The case discusses the importance of genetic counseling and early intervention for improved patient outcomes.",

keywords = "CFTR modulators, CFTR mutations, Chronic cough, Cystic fibrosis (CF), Genetic counseling, Pancreatic insufficiency, Pediatric diagnosis, Respiratory complications, Sweat chloride test, ΔF508 mutation",

author = "Standley, \{Paul R.\}",

note = "Publisher Copyright: {\textcopyright} 2025 The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG.",

year = "2025",

month = jan,

day = "1",

doi = "10.1007/978-3-031-98353-5\_31",

language = "English (US)",

isbn = "9783031983528",

pages = "431--446",

booktitle = "Biomedical Science and Clinical Foundations",

publisher = "Springer Science+Business Media",

}

TY - CHAP

T1 - Persistent Cough

AU - Standley, Paul R.

PY - 2025/1/1

Y1 - 2025/1/1

N2 - The case study explores the diagnostic process, clinical features, and management of cystic fibrosis (CF) through the experience of a 13-month-old boy presenting with a persistent cough, poor growth, and diarrhea. Initial assessments suggest possible chronic respiratory or gastrointestinal issues. A sweat chloride test and genetic testing confirm a diagnosis of CF due to a ΔF508 mutation, the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The case addresses CF’s systemic impact on respiratory, gastrointestinal, reproductive, and endocrine systems and highlights diagnostic challenges, especially in culturally diverse communities. Treatment approaches, including CFTR modulators and supportive therapies, are discussed alongside social determinants of health affecting access to care. The case discusses the importance of genetic counseling and early intervention for improved patient outcomes.

AB - The case study explores the diagnostic process, clinical features, and management of cystic fibrosis (CF) through the experience of a 13-month-old boy presenting with a persistent cough, poor growth, and diarrhea. Initial assessments suggest possible chronic respiratory or gastrointestinal issues. A sweat chloride test and genetic testing confirm a diagnosis of CF due to a ΔF508 mutation, the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The case addresses CF’s systemic impact on respiratory, gastrointestinal, reproductive, and endocrine systems and highlights diagnostic challenges, especially in culturally diverse communities. Treatment approaches, including CFTR modulators and supportive therapies, are discussed alongside social determinants of health affecting access to care. The case discusses the importance of genetic counseling and early intervention for improved patient outcomes.

KW - CFTR modulators

KW - CFTR mutations

KW - Chronic cough

KW - Cystic fibrosis (CF)

KW - Genetic counseling

KW - Pancreatic insufficiency

KW - Pediatric diagnosis

KW - Respiratory complications

KW - Sweat chloride test

KW - ΔF508 mutation

UR - https://www.scopus.com/pages/publications/105023625149

UR - https://www.scopus.com/pages/publications/105023625149#tab=citedBy

U2 - 10.1007/978-3-031-98353-5_31

DO - 10.1007/978-3-031-98353-5_31

M3 - Chapter

AN - SCOPUS:105023625149

SN - 9783031983528

SP - 431

EP - 446

BT - Biomedical Science and Clinical Foundations

PB - Springer Science+Business Media

ER -

Persistent Cough

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this