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<p>Diagnosing nutcracker syndrome can be challenging, particularly when symptoms are suggestive of more common conditions. In such cases, the syndrome is often not considered as an initial differential diagnosis. We report the case of a&#xa0;30-year-old woman with a&#xa0;history of microhematuria since childhood as well as previous episodes of macrohematuria, abdominal pain and urinary tract infections. As her mother, sister and other relatives are affected by Alport syndrome and chronic kidney disease, this was primarily suspected to be the cause of the symptoms; however, serum creatinine was within the normal range, albuminuria was absent and repeated genetic testing for the pathogenic <i>COL4A5</i> variant inherited in her family was negative. Given the persistence of the symptoms, magnetic resonance angiography was performed, revealing findings consistent with symptomatic nutcracker syndrome. The patient declined interventional or surgical treatment. This case illustrates the diagnostic challenge of nutcracker syndrome, particularly when symptoms overlap with more common and reasonable conditions. It underscores the importance of considering vascular causes in patients with unexplained hematuria, even in the context of a&#xa0;family history of Alport syndrome.</p>

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Nutcracker syndrome in an Alport family: a tricky case

  • 期刊论文

  • 发表日期：

    2025年10月6日

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  • Sophie Henriette Schmidt,
  • Diego Parada Rodriguez,
  • Daniela Maria Allmer,
  • Oliver Schlager,
  • Sylvia Metz-Schimmerl,
  • Franco Laccone,
  • Alice Schmidt,
  • Gere Sunder-Plassmann

摘要

Diagnosing nutcracker syndrome can be challenging, particularly when symptoms are suggestive of more common conditions. In such cases, the syndrome is often not considered as an initial differential diagnosis. We report the case of a 30-year-old woman with a history of microhematuria since childhood as well as previous episodes of macrohematuria, abdominal pain and urinary tract infections. As her mother, sister and other relatives are affected by Alport syndrome and chronic kidney disease, this was primarily suspected to be the cause of the symptoms; however, serum creatinine was within the normal range, albuminuria was absent and repeated genetic testing for the pathogenic COL4A5 variant inherited in her family was negative. Given the persistence of the symptoms, magnetic resonance angiography was performed, revealing findings consistent with symptomatic nutcracker syndrome. The patient declined interventional or surgical treatment. This case illustrates the diagnostic challenge of nutcracker syndrome, particularly when symptoms overlap with more common and reasonable conditions. It underscores the importance of considering vascular causes in patients with unexplained hematuria, even in the context of a family history of Alport syndrome.