[Myopathy, osteomalacia, and congenital hypoalbuminemia (author's transl)].
A myopathy revealed the presence of a vitamin-sensitive osteomalacia in a patient with congenital hypoalbuminemia. The severe myopathy and osteomalacia recovered after treatment with 25-hydroxycholecalciferol. Hypoalbuminemia was detected in two brothers of the patient; parents and grandparents were consanguineous. Various tests demonstrated that the patient's hypoalbuminemia was due to faulty synthesis. Albumin reactions to several drugs were normal, but those normally transported by albumin have to be administered cautiously because of the low plasma concentrations. The possible relationship between hypovitaminosis D and congenital hypoalbuminemia, an association considered to be fortuitous by Montgomery, remains debatable.
D000293:Adolescent; D002112:Calcifediol; D005260:Female; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D008297:Male; D009135:Muscular Diseases / Q000188:drug therapy / Q000209:etiology*; D010018:Osteomalacia / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D012709:Serum Albumin / Q000172:deficiency*; D014808:Vitamin D Deficiency / Q000150:complications
D006887:Hydroxycholecalciferols; D012709:Serum Albumin; D002112:Calcifediol
Myopathie. Ostéomalacie et hypoalbuminémie congénitale.