Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges
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 typic...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2025-01-01
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| Series: | Problemy Pielęgniarstwa |
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| Online Access: | https://www.termedia.pl/Pendred-syndrome-Advances-in-diagnostics-r-nand-unresolved-therapeutic-challenges,134,55143,1,1.html |
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| _version_ | 1832584863470845952 |
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| author | Olga Domańska Kinga Brzdęk Michał Brzdęk Szymon Wiśniewski Wiktor Baran |
| author_facet | Olga Domańska Kinga Brzdęk Michał Brzdęk Szymon Wiśniewski Wiktor Baran |
| author_sort | Olga Domańska |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5c6b8bef66974b629057324dcc937b7d |
| institution | Kabale University |
| issn | 1233-9989 2299-8284 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Problemy Pielęgniarstwa |
| spelling | doaj-art-5c6b8bef66974b629057324dcc937b7d2025-01-27T10:41:44ZengTermedia Publishing HouseProblemy Pielęgniarstwa1233-99892299-82842025-01-0132417217710.5114/ppiel.2024.14498755143Pendred syndrome: Advances in diagnostics and unresolved therapeutic challengesOlga DomańskaKinga BrzdękMichał BrzdękSzymon WiśniewskiWiktor BaranPendred 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.https://www.termedia.pl/Pendred-syndrome-Advances-in-diagnostics-r-nand-unresolved-therapeutic-challenges,134,55143,1,1.htmlsensorineural hearing loss pendred syndrome congenital pendrin |
| spellingShingle | Olga Domańska Kinga Brzdęk Michał Brzdęk Szymon Wiśniewski Wiktor Baran Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges Problemy Pielęgniarstwa sensorineural hearing loss pendred syndrome congenital pendrin |
| title | Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges |
| title_full | Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges |
| title_fullStr | Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges |
| title_full_unstemmed | Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges |
| title_short | Pendred syndrome: Advances in diagnostics
and unresolved therapeutic challenges |
| title_sort | pendred syndrome advances in diagnostics and unresolved therapeutic challenges |
| topic | sensorineural hearing loss pendred syndrome congenital pendrin |
| url | https://www.termedia.pl/Pendred-syndrome-Advances-in-diagnostics-r-nand-unresolved-therapeutic-challenges,134,55143,1,1.html |
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