[Familial hypophosphoremic rickets: pathogenic considerations based on two cases (author's transl)].
Familial hypophosphoremic rickets, although exceptional, is a frequent form of presentation in communities where nutritional rachitism has been eradicated. Hypophosphoremia is the biochemical defect which led to an insuffieient osseous mineralization. The real pathogenic mechanism of the disease is still unknown. Two patients, mother and son, who presented anamnesic, biochemical and roentgenographic characteristics suggesting a familial hypophosphoremic rachitism are reported. Clinical, biochemical and roentgenologic data of a secondary reactive hyperparathyroidism were absent in both cases. The present knowledge on the metabolic pathway of vitamin D and its metabolites led us to consider that the basic pathogenic defect appears as a consequence of an intestinal malabsorption of phosphates due to an altered synthesis of 1,25-dihydroxycholecalciferol or its precursor 25-hydroxycholecalciferol.
D000328:Adult; D002648:Child; D004100:Dihydroxycholecalciferols / Q000096:biosynthesis; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000000981:diagnostic imaging / Q000378:metabolism*; D008286:Malabsorption Syndromes / Q000000981:diagnostic imaging / Q000378:metabolism; D008297:Male; D010710:Phosphates / Q000378:metabolism; D011859:Radiography; D014807:Vitamin D / Q000378:metabolism*
D004100:Dihydroxycholecalciferols; D010710:Phosphates; D014807:Vitamin D
Raquitismo hipofosforémico familiar: consideraciones patogénicas a propósito de dos observaciones.