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Background <p>Genetic mutations in alpha-actinin 4 (<i>ACTN4</i>) are one cause of familial focal segmental glomerulosclerosis (FSGS) and steroid-resistant nephrotic syndrome (SRNS) in early adulthood, eventually progressing to end-stage kidney disease. Early initiation of renin–angiotensin–aldosterone system inhibitors (RAASis) is reported to delay progression of several forms of familial FSGS and SRNS; however, no cases involving <i>ACTN4</i> mutations have been reported.</p> Case presentation <p>A 16-year-old boy was admitted to our hospital for a detailed evaluation of proteinuria that first appeared during treatment for Duchenne muscular dystrophy (DMD) and persisted for 1 year. He had been treated with prednisolone and an angiotensin-converting enzyme inhibitor (ACEi) for 2 years prior to the onset of persistent proteinuria. A renal biopsy revealed segmental sclerosis in 1 of 40 glomeruli, with effaced foot processes observed under electron microscopy. Genetic testing identified <i>ACTN4</i> mutation (c·776C &gt; T, p.T259I), leading to a diagnosis of autosomal dominant FSGS caused by <i>ACTN4</i> mutation. After the first appearance of proteinuria, the patient’s renal function and urinary protein levels remained stable for following 7 years.</p> Conclusions <p>We report a case of adolescent-onset FSGS with <i>ACTN4</i> mutation diagnosed during ACEi therapy for the prevention of DMD-associated cardiomyopathy. The patient exhibited stable renal function and no disease progression compared with his father and previously reported cases with the same variant. This is the first reported case of early RAASi induction for treating <i>ACTN4</i>-associated FSGS with long-term stable renal function.</p>

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Early use of renin–angiotensin–aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review

  • 期刊论文

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  • 发表日期：

    2025年9月26日

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  • Kisho Miyasako,
  • Yujiro Maeoka,
  • Yuho Adachi,
  • Ryo Tamura,
  • Naoki Ishiuchi,
  • China Nagano,
  • Kandai Nozu,
  • Takao Masaki

摘要

Background

Genetic mutations in alpha-actinin 4 (ACTN4) are one cause of familial focal segmental glomerulosclerosis (FSGS) and steroid-resistant nephrotic syndrome (SRNS) in early adulthood, eventually progressing to end-stage kidney disease. Early initiation of renin–angiotensin–aldosterone system inhibitors (RAASis) is reported to delay progression of several forms of familial FSGS and SRNS; however, no cases involving ACTN4 mutations have been reported.

Case presentation

A 16-year-old boy was admitted to our hospital for a detailed evaluation of proteinuria that first appeared during treatment for Duchenne muscular dystrophy (DMD) and persisted for 1 year. He had been treated with prednisolone and an angiotensin-converting enzyme inhibitor (ACEi) for 2 years prior to the onset of persistent proteinuria. A renal biopsy revealed segmental sclerosis in 1 of 40 glomeruli, with effaced foot processes observed under electron microscopy. Genetic testing identified ACTN4 mutation (c·776C > T, p.T259I), leading to a diagnosis of autosomal dominant FSGS caused by ACTN4 mutation. After the first appearance of proteinuria, the patient’s renal function and urinary protein levels remained stable for following 7 years.

Conclusions

We report a case of adolescent-onset FSGS with ACTN4 mutation diagnosed during ACEi therapy for the prevention of DMD-associated cardiomyopathy. The patient exhibited stable renal function and no disease progression compared with his father and previously reported cases with the same variant. This is the first reported case of early RAASi induction for treating ACTN4-associated FSGS with long-term stable renal function.