Natrii phosphas-diabetes - dominantly linked to a X-chromosome or is autosomal-dominant disease with deep disturbances of a phosphoric calcium exchange which do not manage to be restored usual doses of vitamin D. In this connection there was other name of illness - a rachitis, refractory to vitamin D; however actually it is a question not of a rachitis, but about disease similar to a rachitis.

Etiology, pathogenesis. Assume, that at Natrii phosphas-diabetes processes of transformation of vitamin D in active substances similar to hormones are broken or sensitivity of receptors of an epithelium of an intestine to action of these metabolites is lowered. Characteristic biochemical attributes are the hypophosphatemia, rising of function of a steam of thyroid glands, high activity of an alkaline phosphatase of a blood.

Natrii phosphas-diabetes has similar features with a usual D-scarce rachitis, but also differs from, it that at the given disease there are no attributes of an intoxication, the general condition remains satisfactory. Unlike a rachitis processes of an osteomalacia and an ossiform hyperplasia are expressed mainly in bones of the bottom extremities (a curvature of long tubular bones or deformation knee and ankle joints). Clinically Natrii phosphas-diabetes is shown not in the first months of a life, and in the second half-year of a life after children start to rise on legs. The course of a disease and at later age - on the second to year of a life, sometimes in 5-6 years is possible.