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<p>Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by the classical triad of acute hemolytic anemia, thrombocytopenia, and kidney impairment. We report a 10-year-old boy with acute pancreatitis presenting simultaneously with atypical HUS (aHUS) with two such episodes occurring 1&#xa0;year apart. The child presented with abdominal pain, vomiting, oliguria, epigastric tenderness, and had a right undescended testis. During the initial episode, anti-factor H antibodies were mildly elevated while they were normal in the subsequent episode with normal complement components. Whole exome sequencing identified a heterozygous pathogenic <i>CFTR</i> variant, predisposing to recurrent pancreatitis and cryptorchidism, as well as a probable heterozygous <i>CFHR1/CFHR3</i> deletion, the gene responsible for recurrent aHUS. Treatment of pancreatitis, hemodialysis, and plasma infusions led to complete recovery of acute kidney injury (AKI) and HUS on both occasions.</p>

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Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood

  • 期刊论文

  • 发表日期：

    2026年3月24日

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  • Mansi Gupta,
  • Akanksha Mahajan,
  • Mukta Mantan

摘要

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by the classical triad of acute hemolytic anemia, thrombocytopenia, and kidney impairment. We report a 10-year-old boy with acute pancreatitis presenting simultaneously with atypical HUS (aHUS) with two such episodes occurring 1 year apart. The child presented with abdominal pain, vomiting, oliguria, epigastric tenderness, and had a right undescended testis. During the initial episode, anti-factor H antibodies were mildly elevated while they were normal in the subsequent episode with normal complement components. Whole exome sequencing identified a heterozygous pathogenic CFTR variant, predisposing to recurrent pancreatitis and cryptorchidism, as well as a probable heterozygous CFHR1/CFHR3 deletion, the gene responsible for recurrent aHUS. Treatment of pancreatitis, hemodialysis, and plasma infusions led to complete recovery of acute kidney injury (AKI) and HUS on both occasions.