Advancements in the Diagnosis and Treatment of Rare Kidney Diseases

Rare kidney diseases constitute a significant factor leading to kidney failure with many having a hereditary basis. The incidence of inherited disorders contributing to adult chronic kidney disease is lower compared to that in children; however, up to 10% of adult patients with chronic kidney diseas...

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Main Author: CHEN Nan
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2024-01-01
Series:罕见病研究
Subjects:
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.002
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author CHEN Nan
author_facet CHEN Nan
author_sort CHEN Nan
collection DOAJ
description Rare kidney diseases constitute a significant factor leading to kidney failure with many having a hereditary basis. The incidence of inherited disorders contributing to adult chronic kidney disease is lower compared to that in children; however, up to 10% of adult patients with chronic kidney disease are affected by a single-gene pathogenic variant. Over the past decade, sequencing technologies have become widely utilized in clinical settings, undergoing continuous iterations and updates to enhance the diagnosis of rare kidney diseases. Simultaneously, the field confronts numerous challenges, particularly in the development and application of novel therapeutic drugs. In an era crucial development, China is set to publish rare disease catalogs in 2018 and 2023, a move that holds the promise of comprehensively advancing the diagnosis, treatment, and research of rare kidney diseases in the country.
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spelling doaj.art-4358ac66e0cc4a9fa1a8cac1321c9be92024-03-01T03:09:23ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-01-0131121710.12376/j.issn.2097-0501.2024.01.002Advancements in the Diagnosis and Treatment of Rare Kidney DiseasesCHEN NanRare kidney diseases constitute a significant factor leading to kidney failure with many having a hereditary basis. The incidence of inherited disorders contributing to adult chronic kidney disease is lower compared to that in children; however, up to 10% of adult patients with chronic kidney disease are affected by a single-gene pathogenic variant. Over the past decade, sequencing technologies have become widely utilized in clinical settings, undergoing continuous iterations and updates to enhance the diagnosis of rare kidney diseases. Simultaneously, the field confronts numerous challenges, particularly in the development and application of novel therapeutic drugs. In an era crucial development, China is set to publish rare disease catalogs in 2018 and 2023, a move that holds the promise of comprehensively advancing the diagnosis, treatment, and research of rare kidney diseases in the country.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.002rare kidney diseasesrare diseasesgenetic diagnosisdiagnosistreatment
spellingShingle CHEN Nan
Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
罕见病研究
rare kidney diseases
rare diseases
genetic diagnosis
diagnosis
treatment
title Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
title_full Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
title_fullStr Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
title_full_unstemmed Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
title_short Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
title_sort advancements in the diagnosis and treatment of rare kidney diseases
topic rare kidney diseases
rare diseases
genetic diagnosis
diagnosis
treatment
url https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.002
work_keys_str_mv AT chennan advancementsinthediagnosisandtreatmentofrarekidneydiseases