Two cases of apparently primary de Toni Debre Fanconi syndrome in 2 brothers aged 12 and 15, of non consanguineous parents, and with identical HLA, are reported. The first presented all the typical stigmas of tubulopathy with severe osteoskeletal lesions; the second showed no tubular acidosis, hypophosphoremia or bone lesions. Proteinuria was present in both cases at respectively 0.7 and 0.4 g/liter. The picture was of mixed glomerulotubular type and perfectly identical in the 2 patients, with large bands in the position of the α 2 and β 2 globulins. Biopsy also gave very similar findings in the 2 cases which presented (optical microscope) some hyalinizing and other unimpaired glomeruli, atrophic tubular areas, and interstitial calcium deposits. Immunofluorescence was negative while ultrastructural examination showed slight mesangial hypercellularity and some pedicle alterations in one of the 2 brothers, while the proximal tubular epithelium was morphologically unimpaired. These data suggest that the de Toni Debre Fanconi syndrome starts with marked proteinuria and aspecific bioptic findings, and that it may, in certain cases, escape clinical examination and simulate glomerulopathy. Further the syndrome may also present with different characteristics in the same family, perhaps owing to variable genetic expressivity.
|Translated title of the contribution||Glomerular lesions and genetical aspects of de Toni Debre Fanconi syndrome|
|Number of pages||7|
|Publication status||Published - 1976|
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