Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood.
Mansi Gupta, Akanksha Mahajan, Mukta Mantan
✦ AI-curated · Sources linked
Case in brief
A 10-year-old boy presented with abdominal pain, vomiting, oliguria, and epigastric tenderness during acute pancreatitis accompanied by atypical hemolytic uremic syndrome (aHUS). The pancreatitis and aHUS recurred in a second episode one year later. Anti-factor H antibodies were mildly elevated initially but normal during recurrence, with normal complement components. Whole-exome sequencing found a heterozygous pathogenic CFTR variant and a probable heterozygous CFHR1/CFHR3 deletion. Treatment of pancreatitis, hemodialysis, and plasma infusions was followed by complete recovery from acute kidney injury and HUS in both episodes.
What made this case unusual
The case combined recurrent pancreatitis and recurrent aHUS, with genetic findings implicating CFTR and CFHR1/CFHR3; anti-factor H antibodies were mildly elevated in only the initial episode.
Diagnostic / clinical pearl
When pancreatitis and aHUS occur together, consider evaluating for genetic findings that may predispose to each condition, even if anti-factor H antibody levels differ between episodes.