Nierenfunktionsuntersuchungen zur Pathogenese des de Toni-Debr�-Fanconi-Syndroms

✍ Scribed by Gekle, D. ;Brunner, H. ;Langer, E.

• Publisher: Springer-Verlag
• Year: 1970
• Weight: 622 KB
• Volume: 109
• Category: Article
• ISSN: 0044-2917
• DOI: 10.1007/bf00443491

✦ Synopsis

The de Toni-Debr6-Fanconi syndrome was observed in a 104/1~ years old boy. Storage of cystine could not be detected in either cornea or bone marrow. Studies of the renal function showed a reduction of the glomerular filtration rate and the PAH-elearance, as well as a global proximal tubular insufficiency. Apart from the typical defects in tubular reabsorption of phosphate, glucose, and amino acids, there was a significant reduction in the fractional resorption of sodium and potassium. The pH of the urine and the uric acid concentration in the blood indicate also a defect in the proximal tubular bicarbonate and urate reabsorption mechanism.