Avtor/Urednik		Brecelj, Jernej; Logar-Car, Gordana; Peče, Henrik
Naslov		Dedna fruktozna intoleranca - prikaz primera
Prevedeni naslov		Hereditary fructose intolerance - case report
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 71, št. 3
Leto izdaje		2002
Obseg		str. 157-60
Jezik		slo
Abstrakt		Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1-phosphate aldolase (aldolase B) activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in infants) or reduction of fructose and sucrose from the diet and results in improvement in the patients clinical status and liver disease. Results. This article presents a patient with heraditary fructose intolerance who was diagnosed 18 years ago on the Department of Pediatric Gastroenterology, Ljubljana Childrens Hospital. At that time oral fructose tolerance test was used to diagnose the disorder. When she was 17 we performed liver biopsy. The enzyme determination showed the absence of aldolase B activity. Conclusions. Only cooperation of different experts enables recognition of rare metabolic disorders which must be prompt to prevent further damage.
Izvleček		Izhodišča. Dedna fruktozna intoleranca je redka prirojena napaka presnove ogljikovih hidratov, ki se kaže s hipoglikemijo, metabolno acidozo in motenim delovanjem jeter po tem, ko bolnik zaužije fruktozo. V preteklosti je diagnostika temeljila na obremenitvenem testu s fruktozo, v zadnjem času pa je možno določanje aktivnosti fruktoze-1-fosfatne aldolaze (aldolaze B) v jetrnem tkivu ali molekularno-genetske preiskave, kadar je mutacija znana. Zdravljenje je z dieto brez oziroma z manj fruktoze (izključi se 90 do 95% fruktoze) in saharoze. Pomen izboljšanje bolnikovega kliničnega stanja in bolezni jeter. Rezultati. V članku predstavljamo bolnico z dedno fruktozno intoleranco, ki smo jo diagnosticirali pred 18 leti na gastroenterološkem oddelku Pediatrične klinike v Ljubljani. Takrat smo za dokaz uporabili fruktozni obremenitveni test. V starosti 17 let smo opravili biopsijo jeter. Določitev encima je pokazala odsotnost aktivnosti aldolaze B. Zaključki. Samo sodelovanje različnih strokovnjakov omogoča prepoznavo redkih presnovnih bolezni, ki mora biti pravočasna, da preprečimo dodatne okvare.
Deskriptorji		FRUCTOSE INTOLERANCE FRUCTOSE-BISPHOSPHATASE CHILD