Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges

Olga Domańska; Kinga Brzdęk; Michał Brzdęk; Szymon Wiśniewski; Wiktor Baran

doi:10.5114/ppiel.2024.144987

eISSN: 2299-8284
ISSN: 1233-9989

Nursing Problems / Problemy Pielęgniarstwa

Current issue Archive Manuscripts accepted About the journal Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

4/2024
vol. 32

Send email

Copy url:

abstract:

Review paper

Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges

Olga Domańska

¹

,

Kinga Brzdęk

¹

,

Michał Brzdęk

²

,

Szymon Wiśniewski

³

,

Wiktor Baran

⁴

Institute of Medical Sciences, Collegium Medicum, Jan Kochanowski University, Kielce, Poland
Department of Infectious Diseases and Allergology, Jan Kochanowski University, Kielce, Poland
Scientific Students Association of Family Medicine, Jan Kochanowski University, Kielce, Poland
Institute of Health Sciences, Jan Kochanowski University, Kielce, Poland

Nursing Problems 2024; 32 (4): 172-177

DOI: https://doi.org/10.5114/ppiel.2024.144987

Online publish date: 2025/01/17

View full text Get citation

PlumX metrics:

Pendred syndrome remains a condition characterised by numerous complexities and unresolved aspects despite significant advancements in understanding its aetiology and clinical manifestations. The aim of the study was to summarise the latest reports on this autosomal recessive disorder.

While typical mutations underlying the syndrome and their implications on cellular function have been elucidated, there are still many unknowns surrounding the disease. Although a typical clinical profile of Pendred syndrome patients has been established, ongoing research continues to uncover new pathomechanisms attributed to these mutations. While diagnostic approaches and clinical guidelines have been refined, effective treatment modalities remain elusive. Despite our enhanced understanding of the disease, the development of targeted and efficacious therapies for Pendred syndrome has yet to be achieved. In summary, while progress has been made in unravelling the intricacies of Pendred syndrome, further research is warranted to bridge existing knowledge gaps and find treatment for this disorder.

keywords:

Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges

Olga Domańska 1 , Kinga Brzdęk 1 , Michał Brzdęk 2 , Szymon Wiśniewski 3 , Wiktor Baran 4

sensorineural hearing loss, Pendred syndrome, congenital, pendrin

Olga Domańska

¹

,

Kinga Brzdęk

¹

,

Michał Brzdęk

²

,

Szymon Wiśniewski

³

,

Wiktor Baran

⁴