000133158 001__ 133158
000133158 005__ 20240322124130.0
000133158 0247_ $$2doi$$a10.3390/diseases12030044
000133158 0248_ $$2sideral$$a137851
000133158 037__ $$aART-2024-137851
000133158 041__ $$aeng
000133158 100__ $$aÚbeda, Félix
000133158 245__ $$aClinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance
000133158 260__ $$c2024
000133158 5060_ $$aAccess copy available to the general public$$fUnrestricted
000133158 5203_ $$aIntroduction: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges. Aim: Our aim was to compile pertinent information on the differential diagnosis of this pathology based on patient symptoms, facilitating the development of a diagnostic algorithm for early identification. Methodology: A systematic review adhering to PRISMA guidelines was conducted on empirical studies from PubMed, encompassing a total of 35 studies. Results: Individuals with fructose intolerance may acutely experience postprandial symptoms such as hypoglycemia, vomiting, and abdominal distension. Despite proper treatment, chronic complications such as fatty liver, Fanconi syndrome, growth deficiency, and irritable bowel syndrome may arise. The proposed diagnostic algorithm aims to minimize these adverse processes. Conclusions: Understanding the pathogenesis enables prompt diagnosis and prevention of chronicity. Establishing continuity of care from pediatric to adult medicine is crucial, and disseminating information to non-pediatric endocrinologists is imperative for managing this rare disease.
000133158 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000133158 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000133158 700__ $$0(orcid)0000-0002-1275-2600$$aSantander, Sonia$$uUniversidad de Zaragoza
000133158 700__ $$0(orcid)0000-0003-4071-1467$$aLuesma, María José$$uUniversidad de Zaragoza
000133158 7102_ $$11003$$2027$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Anatom.Embriol.Humana
000133158 7102_ $$11012$$2315$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Farmacología
000133158 773__ $$g12, 3 (2024), 44 [15 pp.]$$pDiseases$$tDiseases$$x2079-9721
000133158 8564_ $$s1055723$$uhttps://zaguan.unizar.es/record/133158/files/texto_completo.pdf$$yVersión publicada
000133158 8564_ $$s2389591$$uhttps://zaguan.unizar.es/record/133158/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000133158 909CO $$ooai:zaguan.unizar.es:133158$$particulos$$pdriver
000133158 951__ $$a2024-03-22-09:48:27
000133158 980__ $$aARTICLE