Resumo

MIHIC DIAZ, Janice Verónica; PEREIRA ROJAS, María del Valle; VEGAS, Morella  e  VILLARROEL, Manuel Nicolás. Fanconi-Bickel syndrome. Clinical case report and literature review. Arch Venez Puer Ped [online]. 2016, vol.79, n.1, pp.015-018. ISSN 0004-0649.

We present a case of Fanconi- Bickel Syndrome, a rare type of carbohydrate metabolism disorder. Clinical presentation begins during the first months of life with failure to thrive, hepatomegaly, fasting hypoglycemia, rickets and renal proximal tubular dysfunction. Diagnosis is established on the basis of clinical manifestations, radiological findings of rickets, and laboratory investigations showing proximal tubular dysfunction, characterized by glucosuria with fasting hypoglycemia, metabolic acidosis, hypophosphatemia, phosphaturia and aminoaciduria. It was described in 1949 by Fanconi and Bick.

Palavras-chave : Fanconi Bickel Syndrome; glucose transporter GLUT-2 mutations.