Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l’adulte

Vantyghem, Marie-Christine; Mention, C.; Dobbelaere, Dries; Douillard, Claire

doi:10.1016/j.ando.2008.12.007

Cited by 7 publications

(3 citation statements)

References 80 publications

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“…The shift to corn syrup is attributed to its affordability, improved flavor, and extended shelf life [ 1 ]. Disorders related to fructose metabolism include essential fructosuria without clinical consequences and hereditary fructose intolerance or hereditary fructosemia (HFI) [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…It seems that healthy children can have HFI. Severe liver and kidney dysfunction, seizures, coma, and death can occur if untreated [ 2 , 5 , 6 , 16 , 17 , 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

“…The fructose loading test is now only used exceptionally, given the risk of acute hepatocellular failure [ 2 , 7 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance

Úbeda,

Santander,

Luesma

2024

Diseases

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Introduction: 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.

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Section: Introductionmentioning

confidence: 99%

“…It seems that healthy children can have HFI. Severe liver and kidney dysfunction, seizures, coma, and death can occur if untreated [ 2 , 5 , 6 , 16 , 17 , 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%