An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D
| Autor: | Hajime Orimo, Atsushi Yasaka, Yutaka Tsuchiya, Tateo Suda, Masataka Shiraki, Nobutake Matsuo, Mitio Kumagai, Hideo Cho |
|---|---|
| Rok vydání: | 1980 |
| Předmět: |
medicine.medical_specialty
Endocrinology Diabetes and Metabolism Urinary system Clinical Biochemistry Rickets Biochemistry Excretion Endocrinology Internal medicine Vitamin D and neurology medicine Humans Child Hypophosphatemia Familial business.industry Vitamin D-dependent rickets Hydroxycholecalciferols Biochemistry (medical) Biological activity Alopecia medicine.disease Urinary calcium Hypoparathyroidism Intestinal Absorption Ergocalciferols Dihydroxycholecalciferols Calcium Female business |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 51(4) |
| ISSN: | 0021-972X |
| Popis: | 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 microgram/day (6 microgram/kg.day) 1 alpha-hydroxyvitamin D3 nor 5 microgram/day (0.2 microgram/kg.day) 1,25-dihydroxyvitamin D3 proved to have an effect on her abnormal serum chemistry. Seven million international units per day (about 2 x 10(5) 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 the patient has extreme and-organ (intestine) hyposensitivity, probably of congenital origin, to the biologically active metabolites of vitamin D. |
| Databáze: | OpenAIRE |
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