Fanconi syndrome in adults and children.

Chebotareva N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University

Tsygin A.: Scientific Medical Center of Children Health

Bulanov N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Tao E.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Lomakin V.: Clinic of Cardiology, University Clinic Hospital №1, Sechenov First Moscow State Medical University

Maltseva V.: Scientific Medical Center of Children Health

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

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Summary

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.

Key words

Fanconi syndrome, proximal renal tubules, adults, children, cystinosis.