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VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
Author(s) -
BEER S.,
TIEDER M.,
KOHELET D.,
LIBERMAN O. A.,
VURE E.,
BARJOSEPH G.,
GABIZON D.,
BOROCHOWITZ Z. U.,
VARON M.,
MODAI D.
Publication year - 1981
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1981.tb00626.x
Subject(s) - rickets , hypocalcaemia , endocrinology , medicine , vitamin d and neurology , osteomalacia , parathyroid hormone , secondary hyperparathyroidism , vitamin , calcium
SUMMARY A 4‐year‐old girl presented with severe clinical and radiological rickets, and alopecia since the age of 1 year. Laboratory studies revealed: hypocalcaemia, hypophosphataemia, secondary hyperparathyroidism, abnormally low intestinal calcium absorption, and markedly elevated circulating 1,25(OH) 2 D 3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D 2 , 1 α (OH)D 3 and 1,25(OH) 2 D 3 were totally ineffective. Intestinal resistance to the action of 1,25(OH) 2 D 3 appeared well established in this case. Refractoriness of bone to this hormone seems less certain. From this new entity of‘Vitamin D resistant rickets due to end organ unresponsiveness', six cases have been hitherto reported in the literature. However, only two have enough resemblance to our case, to constitute a distinct and well denned nosologic subunit. The molecular basis of this disorder(s) remains to be elucidated.