Scholarlink

Background <p>Advancements in genetic analysis have revealed a higher prevalence of hereditary kidney disease than expected. This study focuses on the enrollment and analysis of patients with chronic kidney disease (CKD) and a family history of CKD to identify disease-causing variants. Additionally, by incorporating data from childhood urine tests, the study examines the utility of these screenings in early disease detection.</p> Methods <p>An observational study utilizing genetic data and clinical assessments from patients with familial CKD. A total of 85 patients with familial CKD, diagnosed by clinicians and confirmed through genetic testing from 2014 to 2020, were included. Patients with cystic kidney diseases were excluded. The presence of <i>COL4As</i> (<i>COL4A3</i>, <i>COL4A4</i>, <i>COL4A5</i>) gene variants and other genetic variants associated with kidney disease was examined using a comprehensive gene panel.</p> Results <p>Of the patients, 41.2% had disease-causing variants in <i>COL4As</i> variants. The median age at manifestation onset was significantly lower in the <i>COL4As</i> group compared to patients with other disease-causing variants or those with&#xa0;no identified disease-causing variants. Early manifestations of microscopic hematuria were notably prevalent, indicating potential early markers for genetic kidney diseases.</p> Conclusions <p>The findings underscore the importance of family history in diagnosing genetic kidney diseases and suggest that early genetic testing, coupled with regular monitoring of urinary abnormalities, could significantly improve disease management and outcomes. Further research is necessary to explore comprehensive genetic screening and its integration into routine clinical practice.</p> Graphical abstract <p></p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月2日

查看全文
  • Ryosuke Kawamoto,
  • Takayasu Mori,
  • Motoko Chiga,
  • Takuya Fujimaru,
  • Azuma Nanamatsu,
  • Tamami Fujiki,
  • Yutaro Mori,
  • Shintaro Mandai,
  • Fumiaki Ando,
  • Koichiro Susa,
  • Tatemitsu Rai,
  • Eisei Sohara,
  • Shinichi Uchida

摘要

Background

Advancements in genetic analysis have revealed a higher prevalence of hereditary kidney disease than expected. This study focuses on the enrollment and analysis of patients with chronic kidney disease (CKD) and a family history of CKD to identify disease-causing variants. Additionally, by incorporating data from childhood urine tests, the study examines the utility of these screenings in early disease detection.

Methods

An observational study utilizing genetic data and clinical assessments from patients with familial CKD. A total of 85 patients with familial CKD, diagnosed by clinicians and confirmed through genetic testing from 2014 to 2020, were included. Patients with cystic kidney diseases were excluded. The presence of COL4As (COL4A3, COL4A4, COL4A5) gene variants and other genetic variants associated with kidney disease was examined using a comprehensive gene panel.

Results

Of the patients, 41.2% had disease-causing variants in COL4As variants. The median age at manifestation onset was significantly lower in the COL4As group compared to patients with other disease-causing variants or those with no identified disease-causing variants. Early manifestations of microscopic hematuria were notably prevalent, indicating potential early markers for genetic kidney diseases.

Conclusions

The findings underscore the importance of family history in diagnosing genetic kidney diseases and suggest that early genetic testing, coupled with regular monitoring of urinary abnormalities, could significantly improve disease management and outcomes. Further research is necessary to explore comprehensive genetic screening and its integration into routine clinical practice.

Graphical abstract