Paediatria Croatica, Vol. 65 No. 1, 2021.
Pregledni rad
https://doi.org/10.13112/PC.2021.6
Hereditary fructose intolerance – two case reports and literature review
Kristina Paponja
Valentina Rahelić
Nikola Mesarić
Tamara Žigman
Ana Škaričić
Iva Bilandžija-Kuš
Eva Pavić
Irena Senečić-Čala
Mladen Peršić
Jurica Vuković
Ivo Barić
Danijela Petković Ramadža
Sažetak
Hereditary fructose intolerance or fructosemia is an inborn error of fructose metabolism caused by deficiency of the enzyme fructose- -1-phosphate aldolase. Individuals with this disorder are asymptomatic until fructose, sucrose, or sorbitol is introduced to the diet. First symptoms usually appear in infancy, after solid food containing fructose is started. Common acute presentation is nausea, vomiting, and symptoms of hypoglycaemia. In some infants, acute liver failure may occur. If the disease is unrecognized, chronic exposure to fructose may cause recurrent vomiting, episodes of abdominal pain, failure to thrive, chronic liver disease, proximal renal tubular dysfunction, and growth retardation. Many patients develop strong and protective aversion to sweet-tasting food. Labora- tory findings in acute crisis include hypoglycaemia, hypophosphataemia, hyperuricaemia, metabolic acidosis, and elevated liver enzymes. Complete elimination of fructose from the diet results in dramatic recovery. The diagnosis of hereditary fructose intoler- ance is confirmed by genetic testing. The cornerstone of treatment is exclusion of fructose, sucrose, and sorbitol from the diet, which results in complete alleviation of all signs and symptoms. The aim of this paper is to raise awareness of the spectrum of clinical symptoms in patients suffering from this rare but treatable metabolic disorder, by presenting two patients with different clinical course.
Ključne riječi
FRUCTOSE INTOLERANCE; LIVER DISEASES
Hrčak ID:
253866
URI
Datum izdavanja:
17.3.2021.
Posjeta: 1.751 *