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May 1949

Le syndrome de diabète rénal avec rachitisme ostéomalacique incurable et troubles du développment chez l'enfant.

Am J Dis Child. 1949;77(5):691. doi:10.1001/archpedi.1949.02030040705020

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Abstract

The syndrome discussed in this monograph is most frequently associated with the names of Debré, de Toni and Fanconi. It consists of renal diabetes, intractable rickets with osteomalacia and deficiency in development, particularly in height; there is an associated acidosis without ketosis, disturbances of renal function and hypophosphatemia. The onset is usually in early infancy, but a later form with an onset between the third and fifth year is also known.

The presentation covers the historical recognitions, clinical descriptions of the early and late types, the underlying changes in body chemistry, the pathologic anatomy and the physiologic pathologic modifications. These are discussed, also, in relation to other similar syndromes. There is a timely warning of the danger to these patients of glucose tolerance tests, as they frequently suffer a hyperglycemic shock during such tests, which may be fatal. The hypophosphatemia is contrasted to the hyperphosphatemia in renal rickets. The possible

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