Selektives Essverhalten und Hepatopathie bei einem 2 Jahre alten Jungen

Zusammenfassung

Die hereditäre Fruktoseintoleranz ist eine seltene, autosomal-rezessiv vererbbare Erkrankung des Fruktosestoffwechsels. Bei betroffenen Patienten zeigt sich in der Ernährungsanamnese oft eine natürliche Aversion gegen süße Speisen.

Klinisch kann es zu Hypoglykämie, Hepato -splenomegalie, Hepatopathie und Gedeihstö-rung kommen. Das klinische Bild, Diagnose-stellung, Therapie sowie differenzialdiagnostische Überlegungen werden anhand des Fallbeispiels eines 2 Jahre alten Jungen dargestellt.

Summary

Hereditary fructose intolerance is a rare, autosomal recessively inherited disorder of fructose-metabolism. The nutritional history of affected patients reveals a natural aversion to sweet food. Clinical presentations include hypoglycemia, hepatosplenomegaly, hepatopathy and failure to thrive. Clinical symptoms, mode of diagnosis and therapy as well as considerations regarding differential diagnosis are described in this case report of a 2-year-old boy.

Schlüsselwörter

Hepatosplenomegalie - Hepatopathie - Nahrungsmittelpräferenz - Gedeihstörung - angeborene Stoffwechselerkrankung - hereditäre Fruktoseintoleranz

Keywords

Hepatosplenomegaly - hepatopathy - food preferences - failure to thrive - inborn error of metabolism - hereditary fructose intolerance

• Literatur

• 1 Ali M, Rellos P, Cox TM. Hereditary fructose intolerance. J Med Genet 1998; 35: 353-365.
• 2 Bouteldja N, Timson DJ. The biochemical basis of hereditary fructose intolerance. J Inherit Metab Dis 2010; 33: 105-112.
• 3 Chambers RA, Pratt RT. Idiosyncrasy to fructose. Lancet 1956; 271: 340.
• 4 Cox TM. Aldolase B and fructose intolerance. FASEB J 1994; 8: 62-71. Review.
• 5 Cross NC, de Franchis R, Sebastio G. et al. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet 1990; 335: 306-309.
• 6 Cross NC, Cox TM. Partial aldolase B gene deletions in hereditary fructose intolerance. Am J Hum Genet 1990; 47: 101-106.
• 7 Davit-Spraul A, Costa C, Zater M. et al. Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France-identification of eight new mutations. Mol Genet Metab 2008; 94: 443-447.
• 8 Ferri L, Caciotti A, Cavicchi C. et al. Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. JIMD Rep 2012; 6: 31-37.
• 9 Gruchota J, Pronicka E, Korniszewski L. et al. Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. Mol Genet Metab 2006; 87: 376-378.
• 10 Häberle J. Varianten von Harnstoffzyklusstörungen. Monatsschr Kinderheilkd 2011; 159: 834-841.
• 11 Hoffmann GF, Engelmann G. Liver disease. In: Inherited Metabolic Diseases Hoffmann GF, Zschocke J, Nyhan WL. (eds). Berlin: Springer; 2010: 89-108.
• 12 James CL, Rellos P, Ali M. et al. Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. J Med Genet 1996; 33: 837-841.
• 13 Lench NJ, Telford EA, Andersen SE. et al. An EST and STS-based YAC contig map of human chromosome 9q22.3. Genomics 1996; 38: 199-205.
• 14 Morris Jr RC. An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. J Clin Invest 1968; 47: 1648-1663.
• 15 Rüegger CM, Lindner M, Ballhausen D. et al. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis 2014; 37: 21-30.
• 16 Santer R, Rischewski J, von Weihe M. et al. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat 2005; 25: 594.
• 17 Shin YS, Moro V, Doliwa H, Endres W. A radioisotopic method for fructose-1-phosphate aldolase assay that facilitates diagnosis of hereditary fructose intolerance. Clin Chem 1983; 29: 1955-1958.
• 18 Steinmann B, Gitzelmann R, Van den Berghe G. Disorders of fructose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). The Metabolic and Molecular Bases of Inherited Disease 7ht ed.. New York: McGraw-Hill; 2001: 1489-1520.
• 19 Steinmann B, Santer R, van den Berghe G. Disorders of fructose metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH. (eds). Inborn metabolic diseases 4th ed.. Heidelberg: Springer; 2006: 136-142.
• 20 Wong D. Hereditary fructose intolerance. Mol Genet Metab 2005; 85: 165-167.