Toni-Debre-Fanconi syndrome

Dubois et al. (D24) have made an intensive study of a case of de Toni-Debre-Fanconi syndrome in a 2-year-old child in which there were no cystine deposits they also found an abundant excretion of eitrulline, but no correlation between glycosuria and amino aciduria in the course of a glucose tolerance test (Fig. 4). 

Fig. 4. Chromatogram of a 24-hr urine specimen (sample 1 ml 1,450 ml/24 hr) of a 2-year-old child with de Toni-Debre-Fanconi syndrome (D24). The following features are to be noted. All peaks found in the urine of a normal 2-year-old child are also found here but the peaks here are much higher. In Fig. 3, the sample amounted to 0.625 % of the total 24-hr urine specimen, whereas here it amounts to only 0.07 %. The citrulline peak is a substantial one in the present case, whereas it is absent in normal children.

Excretion of cystine in abnormal amounts can occur in many other cases for instance in cystinosis, the characteristic feature of which is the deposit of cystine crystals in the body tissues, although cystinosis is not always accompanied by excessive excretion of cystine alone in the urine. In de Toni-Debre-Fanconi syndrome there is also an increased cystine output, but this is part of a generalized hyperamino aciduria such as... 

D22. de Toni, G., Renal rickets with phospho-glucoamino renal diabetes (de Toni-Debre-Fanconi Syndrome). Ann. Paediat. 187, 42-80 (1956). 

A child with developmental delay and epilepsy developed glycosuria about 16 months after starting to take valproic acid (90). Laboratory evaluation showed global defects in proximal tubule function, consistent with the De Toni-Debre-Fanconi syndrome. The authors reviewed the literature on this rare complication, which is reversible on valproate withdrawal. 

F20. Frezal, J., Lestradet, H., Jacob, P., and Lortholary, P., Modification transitoire de l aminoacidurie, au cours d une perfusion calcique, dans le syndrome de Toni-Debre-Fanconi. Rev. franc , etudes clin. et biol. 3, 626-630 (1958). 

H15. Hooft, C, and Vermassen, A., Syndrome de De Toni-Debre-Fanconi chez un enfant atteint de nephrose lipoidique. Ann. Paediat. 190, 1-17 (1958). 

NING, C., KUHARA, T INOUE, Y, ZHANG, C.H., MATSUMOTO, M., SHINKA, T., FURUMOTO, T., YOKOTA, K., MATSUMOTO, I., Gas chromatographic mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with De Toni-Fanconi-Debre syndrome, Acta Paediatrica Japonica, 1996,38,661-666. 

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