De Toni-Debré-Fanconi syndrome
Related people
Now relates more to a group of conditions than to a specific conditon. There is a defect in the reabsorption of glucose, amino acids, phosphate and potassium. Aminoaciuria associated with rickets, due to failure of the proximal renal tubules or to dysfunction of the deamination process. Very long list of clinical features may include rickets, polyuria, short stature, microcephaly, mental retardation etc. Both sexes affected, normal at birth and during postnatal period, usual onset at 4 to 6 months of age. Death usually occurs before the age of 10. The syndrome can appear in the 30s and 40s without any apparent precipitating cause. The disorder is probably transmitted as a Mendelian recessive trait.
Bibliography
- G. de Toni:
Remarks on the relation between renal rickets (renal dwarfism) and renal diabetes.
Acta pædiatrica, Stockholm, 1933, 16: 479. - R. Debré, J. Marie, F. Cleret, Messimy:
Rachitisme tardif coexistant avec une néphrite chronique et une glycosurie.
Arch Méd Enf Paris, 1934, 37: 597. - G. Fanconi:
Der frühinfantile nephrotisch-glykosurische Zwergwuchs mit Hypophosphatämischer Rachitis.
Jahrbuch für Kinderheilkunde, Berlin, 1936, 147: 299.