ABSTRACT
The heights and symptoms of 52 patients, aged at least 18 years, with X-linked hypophosphataemic rickets were analysed retrospectively; 47 had been seen as children and 5 were adult at their first examination. 2 patients were lost to follow-up. 3 patients had died but their adult heights were known. There was no evidence that any form of treatment (ie, vitamin D in high doses, vitamin D plus phosphate supplements, or calcitriol plus phosphate) had any effect on adult height, symptoms, or alkaline phosphatase levels. There was a negative relation between adult height and the number of osteotomies undergone. The complications of treatment, such as renal failure, which occurred secondary to vitamin D intoxication in 3 patients in their twenties, may outweight any possible benefits. Until a treatment is established as effective in controlled trials, it may be better that these patients remain untreated.
Subject(s)
Body Height , Hypophosphatemia, Familial/complications , Rickets/complications , Adolescent , Adult , Calcitriol/therapeutic use , Child, Preschool , Evaluation Studies as Topic , Female , Follow-Up Studies , Genetic Linkage , Humans , Hypophosphatemia, Familial/drug therapy , Hypophosphatemia, Familial/genetics , Kidney Failure, Chronic/chemically induced , Male , Middle Aged , Pain/etiology , Retrospective Studies , Rickets/drug therapy , Rickets/genetics , Vitamin D/adverse effects , Vitamin D/therapeutic use , X ChromosomeABSTRACT
In small children with nutritional vitamin D deficiency, the serum concentration of 25-hydroxyvitamin D (25-OH-D), the major circulating metabolite of vitamin D, was correlated with the stage of clinical disease. It was low (16 to 20 ng/ml) but within the normal range in the earliest (hypocalcemic) stage of the deficiency syndrome and decreased (less than 15 ng/ml) in the more advanced stages. In patients with familial hypophosphatemia (X-linked dominant), mean serum 25-OH-D concentration was the same as in age-matched normal controls. Evidence is presented that endogenous parathyroid hormone may have a role in the depletion of serum 25-OH0D in deficiency states.
Subject(s)
Hydroxycholecalciferols/blood , Rickets/blood , Adolescent , Alkaline Phosphatase/blood , Calcium/blood , Child , Child, Preschool , Female , Humans , Hypophosphatemia, Familial/blood , Hypophosphatemia, Familial/complications , Hypophosphatemia, Familial/enzymology , Infant , Male , Parathyroid Hormone/blood , Phosphorus/blood , Rickets/enzymology , Vitamin D Deficiency/complicationsABSTRACT
Two cases of vitamin D deficiency rickets verify the occurrence of deficiency rickets in the United States in 1973. The two cases demonstrate the need for periodic reviews of feeding practices, especically when the possibility of so-called milk allergy is postulated. This may lead to avoidance of milk products. Fortification of various kinds of food with vitamin D does not ensure the protection from nutritional rickets of all children with peculiar feeding habits.