Fanconi syndrome in adults and children.Download in PDF
Fanconi syndrome is a rare disorder characterized by a generalized dysfunction of the proximal renal tubules and excess amounts of glucose, certain amino acids, vitamins, bicarbonate, phosphates, uric acid, potassium, and other substances being excreted in the urine. In adults, proximal tubulopathy is usually caused by exogenic (i.e. heavy metals) or endogenic (i.e. light chains of immunoglobulins) toxins, medicines or food additives, whereas in pediatric patients various rare hereditary diseases, particularly cystinosis, should be ruled out. Diagnosis of cystinosis is essential for the timely initiation of pathogenetic treatment that prevents cristallization of cystine and induces its elimination from lysosomes in organs and tissues. The authors discuss two clinical cases of Fanconi syndrome in adult and pediatric patient.
Fanconi syndrome, proximal renal tubules, adults, children, cystinosis.