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<p>Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane. Alport syndrome is a classic example caused by variants in the genes <i>COL4A3</i>, <i>COL4A4</i>, or <i>COL4A5</i>. Less common example includes nail-patella syndrome (<i>LMX1B</i>-associated nephropathy), which is caused by variants in the <i>LMX1B</i> gene. The manifestations of <i>LMX1B</i>-associated nephropathy and Alport syndrome can overlap because they share abnormalities in type IV collagen, and this can sometimes cause diagnostic challenges. We describe a case of focal segmental glomerulosclerosis with the genetic test revealing concurrent variants of both Alport syndrome and nail-patella syndrome after noting features of nail-patella syndrome on clinical examination, although the kidney biopsy showed features compatible with Alport syndrome. Our case highlighted the importance of astute clinical examination backed up by genetic testing, which aids in diagnosis and subsequent management.</p>

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A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月26日

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  • Winston Wing-Shing Fung,
  • Maggie Lo-Yee Yau,
  • Pensi Ping Hei Lam,
  • Cheuk-Chun Szeto,
  • Shuk-Ching Chong,
  • Kai-Ming Chow

摘要

Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane. Alport syndrome is a classic example caused by variants in the genes COL4A3, COL4A4, or COL4A5. Less common example includes nail-patella syndrome (LMX1B-associated nephropathy), which is caused by variants in the LMX1B gene. The manifestations of LMX1B-associated nephropathy and Alport syndrome can overlap because they share abnormalities in type IV collagen, and this can sometimes cause diagnostic challenges. We describe a case of focal segmental glomerulosclerosis with the genetic test revealing concurrent variants of both Alport syndrome and nail-patella syndrome after noting features of nail-patella syndrome on clinical examination, although the kidney biopsy showed features compatible with Alport syndrome. Our case highlighted the importance of astute clinical examination backed up by genetic testing, which aids in diagnosis and subsequent management.