Early history of familial hypophosphataemic vitamin D-resistant rickets. Report of three cases observed since birth
Schimert, G.; Fanconi, A.
Helvetica Paediatrica Acta 38(4): 383-398
1983
ISSN/ISBN: 0018-022X PMID: 6317614 Document Number: 202152
Three patients with familial hypophosphataemic vitamin D-resistant rickets (FHR) born to affected mothers have been clinically, radiologically and biochemically observed since birth. The value of the different early diagnostic signs is evaluated, and the efficiency of early phosphate and vitamin D treatment is discussed. It is concluded that in infants of FHR-affected mothers the disease can be diagnosed by careful physical examinations and by a pathological increase of serum alkaline phosphatase with normal serum calcium, before radiological signs of rickets occur; the serum phosphate concentrations in early infancy are variable and of little or no diagnostic help; early treatment is useful to cure or even to avoid rickets and to normalize serum alkaline phosphatase, but not hypophosphataemia; in spite of some favourable results, the influence of treatment started early on growth and leg deformities is difficult to assess because of the individual variations of the disease.