TY - JOUR
T1 - VITAMIN D RESISTANT RICKETS WITH ALOPECIA
T2 - A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
AU - BEER, S.
AU - TIEDER, M.
AU - KOHELET, D.
AU - LIBERMAN, O. A.
AU - VURE, E.
AU - BAR‐JOSEPH, G.
AU - GABIZON, D.
AU - BOROCHOWITZ, Z. U.
AU - VARON, M.
AU - MODAI, D.
PY - 1981/4
Y1 - 1981/4
N2 - 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)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 α (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 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.
AB - 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)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 α (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 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.
UR - http://www.scopus.com/inward/record.url?scp=0019442654&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2265.1981.tb00626.x
DO - 10.1111/j.1365-2265.1981.tb00626.x
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C2 - 6266702
AN - SCOPUS:0019442654
SN - 0300-0664
VL - 14
SP - 395
EP - 402
JO - Clinical Endocrinology
JF - Clinical Endocrinology
IS - 4
ER -