Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. The mode of inheritance was autosomal dominant, a father and his son being affected. Severe early signs of rickets and delayed growth were present in both cases. Plasma 1,25 dihydroxyvitamin D and PTH levels were normal. There was no hypercalciuria. Complete cure of rickets and catch-up growth were obtained with the only treatment of vitamin D (40,000 U/day) in the father and of 1 alpha hydroxyvitamin D (1 microgram/day) in the son. This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. It illustrates the heterogeneity of familial hypophosphatemia which presently includes 4 different physiopathological entities.
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PMID:[Scriver type autosomal hypophosphatemic rachitis: a family case]. 283 21