Inflammation of the pancreas may trigger aHUS, boy’s case shows
Report stresses need for prompt testing, treatment for better outcomes
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Recurrent pancreatitis, or inflammation of the pancreas, an organ essential for digestion, may trigger atypical hemolytic uremic syndrome (aHUS) in people with mutations that increase the risk of this immune system-related condition.
That’s according to a new report detailing the case of a young boy in India who was treated for aHUS for the second time in slightly more than one year after both times experiencing acute pancreatitis.
The findings from this case, the researchers say, support the need for prompt recognition — including genetic testing — and aggressive therapy to improve outcomes.
“The association of aHUS with pancreatitis is scarcely reported, with most cases in adults,” the researchers wrote. However, a genetic mutation identified in the child “may have conferred susceptibility … with acute pancreatitis acting as the precipitating trigger,” the team wrote.
The scientists noted that “genetic … evaluation is crucial” in cases associated with pancreatitis.
The case, “Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood,” was published in the journal Pediatric Nephrology.
aHUS is marked by uncontrolled activation of the complement system — part of the body’s immune response — that leads to widespread damage to small blood vessels.
This results in the classic triad of aHUS symptoms: hemolytic anemia, which occurs when red blood cells are destroyed faster than they are produced, low platelet levels, known as thrombocytopenia, and acute kidney failure. Platelets are tiny cell fragments that help the blood to clot.
While aHUS mainly affects the kidneys, it can involve other organs. Pancreatitis has been rarely reported in the context of aHUS, but exactly how and why it appears in these patients is still scarcely understood.
Boy had second episode of acute pancreatitis 1 year after a first one
In this report, a trio of researchers from Maulana Azad Medical College in New Delhi described the case of a 10-year-old boy whose repeated episodes of abdominal pain preceded acute kidney injury.
The boy was treated at the hospital after one week of abdominal pain, vomiting, and poor oral intake, followed by three days of markedly reduced urine.
He had experienced a similar event one year earlier and was diagnosed with aHUS with acute pancreatitis, the researchers noted.
During that first hospitalization, blood work showed signs of anemia, thrombocytopenia, complement system activation, and kidney injury. Pancreatic enzymes were markedly elevated, and an abdominal MRI scan revealed an enlarged pancreas.
The child at that time received hemodialysis, in which the filtering functions normally performed by the kidneys are done by a specialized machine, and plasma infusions, given to filter out disease-driving proteins. He also was given antibiotics. According to the team, the child had recovered fully.
The researchers noted that most cases of pancreatitis and aHUS are seen in adults, “where gallstones and alcoholism are predisposing factors.” However, the team noted that genetics can play a role.
Genetic testing showed gene mutation linked to pancreatitis
In the new episode, the boy had high blood pressure and abdominal tenderness with guarding. Lab tests again again showed anemia, thrombocytopenia, and kidney injury — along with high pancreatic enzymes and elevated lactate dehydrogenase (LDH), a marker of red blood cell breakdown and tissue damage. Levels of two complement proteins, C3 and C4, were normal, and anti–factor H antibodies, a complement activation marker, were not elevated. Ultrasound did not reveal gallstones or a tumor.
The boy was diagnosed with acute pancreatitis with recurrent aHUS. He required three hemodialysis sessions to treat high potassium levels and a lack of urination, according to the researchers.
He received plasma infusions along with red blood cell transfusions to treat anemia and platelet transfusions to raise platelet counts. He also received blood pressure medicines, antibiotics, and supportive care.
After treatment, his kidney function and pancreatitis resolved, and he was discharged by the end of the second week.
Genetic testing, meanwhile, revealed a mutation in the CFTR gene — best known for causing the genetic disease cystic fibrosis — which can also increase the risk of recurrent pancreatitis.
Other genetic findings included a chromosome deletion involving the CFHR3 and CFHR1 genes, which has been reported in some people with aHUS, and a variant of uncertain significance in the SLC3A1 gene, which is linked to cystinuria. Cystinuria is a genetic condition that affects the kidneys’ ability to reabsorb certain amino acids, especially cystine. When cystine builds up in urine, it can form kidney stones.
Pancreatitis may not only complicate but also precipitate aHUS in genetically susceptible individuals. … Prompt recognition and aggressive supportive therapy can improve outcomes.
At one month of follow-up, the child had no symptoms and had normal blood pressure. His kidney function and pancreatic enzyme levels were normal, and no protein or cells were found in his urine.
In light of his recurrent aHUS episodes, clinicians anticipated he may need the complement inhibitor Soliris (eculizumab) if future episodes occur. Because Soliris can increase susceptibility to certain serious bacterial infections, he was vaccinated against both.
Overall, this report suggests that “pancreatitis may not only complicate but also precipitate aHUS in genetically susceptible individuals,” the researchers wrote. The team noted that “prompt recognition and aggressive supportive therapy can improve outcomes.”
