Related Experiment Videos
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]
Insights
A boy with undiagnosed hereditary fructose intolerance developed severe hypoglycemia and acidosis after receiving fructose infusions during an appendectomy. This highlights the lethal risk of fructose in undiagnosed cases, even in older children.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Metabolic Disorders
Background:
- Hereditary fructose intolerance (HFI) is a rare genetic metabolic disorder.
- It is typically diagnosed in infancy upon introduction of fructose-containing foods.
- Undiagnosed HFI poses significant health risks when fructose is administered, even intravenously.
Observation:
- A 14-year-old boy underwent an appendectomy for undiagnosed chronic abdominal pain.
- Postoperatively, he received intravenous fructose-containing solutions totaling 250g over 30 hours.
- He rapidly developed sopor, hypoglycemia, acidosis, and anuria.
Findings:
- Despite suspected HFI, cessation of fructose, and initiation of hemodialysis, the patient experienced acute kidney and liver failure.
- Postmortem biochemical analysis of liver tissue confirmed hereditary fructose intolerance.
- The case underscores the potential toxicity of fructose infusions in individuals with undiagnosed HFI.
Implications:
- Fructose, sorbitol, and invert sugars should be cautiously used in intravenous fluids, especially in patients with unknown metabolic status.
- This case emphasizes that HFI risk extends beyond infancy and can manifest in older children and adolescents.
- Awareness and prompt diagnosis of HFI are critical to prevent fatal complications from iatrogenic fructose exposure.
Abstract:
Appendectomy was performed in a 14 1/2-year-old boy with undiagnosed hereditary fructose intolerance because of chronic recurrent abdominal pain. During and after operation fructose containing solutions were infused. The patient received a total of 250 g fructose intravenously over 30 hours. Hours after onset of infusion he became soporous, hypoglycaemic and acidotic and was anuric after one day. Although the diagnosis was suspected by the end of the first postoperative day and fructose had been cancelled and haemodialysis been started, the boy died after a further 3 days with signs of acute kidney and liver failure. The diagnosis of hereditary fructose intolerance was biochemically established in post mortem liver tissue. This case recalls the fact that fructose, sorbitol or invert sugars should not be added to infusion solutions as they may be toxic for healthy persons and imply a lethal risk for patients with undiagnosed hereditary fructose intolerance, even well beyond the baby and infant period.