Artigo Revisado por pares

An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

1980; Oxford University Press; Volume: 51; Issue: 4 Linguagem: Inglês

10.1210/jcem-51-4-685

ISSN

1945-7197

Autores

Yutaka Tsuchiya, Nobutake Matsuo, Hideo Cho, Mitio Kumagai, Atsushi Yasaka, T Suda, Hajime Orimo, Masataka Shiraki,

Tópico(s)

Parathyroid Disorders and Treatments

Resumo

A 12-yr-old female patient with an unusual form of vitamin D dependency and alopecia is described. She was a product of consanguineous mating and developed signs and symptoms suggesting vitamin D dependency early in life. Neither 150 μg/day (6 μg/kg·day) 1α-hydroxyvitamin D3) nor 5 μg/day (0.2 μg/kg·day) 1,25-dihydroxyvitamin D3 proved to have an effect on her abnormal serum chemistry. Seven million international units per day (about 2 × 105 IU/kg·day) of native vitamin D restored her serum chemistry to normal and brought about marked improvement on skeletal radiographs, when her serum 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and 24,25-di-hydroxyvitamin D were 4250, 4.8, and 35 ng/ml, respectively. Even with the high serum levels of vitamin D metabolites, her intestinal 47Ca absorption rate remained in the lower normal range and urinary calcium excretion was decidedly low. Association of hypoparathyroidism was ruled out. These results suggest that this patient has extreme end-organ (intestine) hyposensitivity, probably of congenital origin, to the biologically active metabolites of vitamin D.

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