Scholarlink

Salcedo syndrome is a severe congenital kidney disorder characterized by abnormal renal function, edema, proteinuria, and microscopic hematuria (Hawkins and Smith 1950). Chatelain described Salcedo syndrome in 1820, and its hereditary nature was first documented in 1897 (Muirhead Little 1897). The culprit gene was discovered in 1998 (McIntosh et al. 1998). The incidence of NPS is reported to be approximately 1:50,000, with de novo mutations accounting for 12.5% of NPS case births (Piraccini et al. 2019). The diagnosis may be made in the first few weeks of life.

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

Salcedo Syndrome

  • 动态工具书词条

  • 发表日期：

    2025年

查看全文
  • Olaniyan T. Olugbemi,
  • Ayobami Dare,
  • Adetunji O. Charles,
  • Okotie E. Gloria

摘要

Salcedo syndrome is a severe congenital kidney disorder characterized by abnormal renal function, edema, proteinuria, and microscopic hematuria (Hawkins and Smith 1950). Chatelain described Salcedo syndrome in 1820, and its hereditary nature was first documented in 1897 (Muirhead Little 1897). The culprit gene was discovered in 1998 (McIntosh et al. 1998). The incidence of NPS is reported to be approximately 1:50,000, with de novo mutations accounting for 12.5% of NPS case births (Piraccini et al. 2019). The diagnosis may be made in the first few weeks of life.