遗传性维生素D依赖性佝偻病的发病机制。一种维生素D代谢的先天性缺陷，涉及25-羟基维生素D向1α,25-二羟基维生素D的转化缺陷。 - Suppr

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Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

作者信息

Fraser D, Kooh S W, Kind H P, Holick M F, Tanaka Y, DeLuca H F

出版信息

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.

DOI:10.1056/NEJM197310182891601

PMID:4357855

Abstract

摘要

相似文献

Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.

New developments in pharmacology of vitamin D.

Med Lett Drugs Ther. 1974 Feb 1;16(3):15-6.

Familial hypophosphatemia: the dilemma of treatment.

N Engl J Med. 1973 Sep 6;289(10):531-2. doi: 10.1056/NEJM197309062891010.

A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.

N Engl J Med. 1981 Jun 25;304(26):1588-91. doi: 10.1056/NEJM198106253042608.

[Vitamin d: recent acquisitions].

Arch Fr Pediatr. 1974 Nov;31(9):837-41.

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Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

N Engl J Med. 1975 Oct 23;293(17):840-4. doi: 10.1056/NEJM197510232931702.

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Pediatrics. 1987 Jul;80(1):97-101.

Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets.

N Engl J Med. 1980 Oct 30;303(18):1023-31. doi: 10.1056/NEJM198010303031802.

Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.

Arch Intern Med. 1972 Jun;129(6):894-9.

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Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

作者信息

Fraser D, Kooh S W, Kind H P, Holick M F, Tanaka Y, DeLuca H F

出版信息

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.

DOI:10.1056/NEJM197310182891601

PMID:4357855

Abstract

摘要

相似文献

Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.

New developments in pharmacology of vitamin D.

Med Lett Drugs Ther. 1974 Feb 1;16(3):15-6.

Familial hypophosphatemia: the dilemma of treatment.

N Engl J Med. 1973 Sep 6;289(10):531-2. doi: 10.1056/NEJM197309062891010.

A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.

N Engl J Med. 1981 Jun 25;304(26):1588-91. doi: 10.1056/NEJM198106253042608.

[Vitamin d: recent acquisitions].

Arch Fr Pediatr. 1974 Nov;31(9):837-41.

Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

N Engl J Med. 1978 May 4;298(18):996-9. doi: 10.1056/NEJM197805042981804.

Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

N Engl J Med. 1975 Oct 23;293(17):840-4. doi: 10.1056/NEJM197510232931702.

1 alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia.

Pediatrics. 1987 Jul;80(1):97-101.

Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets.

N Engl J Med. 1980 Oct 30;303(18):1023-31. doi: 10.1056/NEJM198010303031802.

Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.

Arch Intern Med. 1972 Jun;129(6):894-9.

引用本文的文献

Clinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.

BMC Med Imaging. 2025 Sep 26;25(1):382. doi: 10.1186/s12880-025-01924-6.

Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.

Turk Arch Pediatr. 2025 Sep 1;60(5):483-490. doi: 10.5152/TurkArchPediatr.2025.25140.

A Novel Compound Nonsense Variant in Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

Diseases. 2024 Oct 11;12(10):248. doi: 10.3390/diseases12100248.

Prenatal vitamin D deficiency exposure leads to long-term changes in immune cell proportions.

Sci Rep. 2024 Aug 27;14(1):19899. doi: 10.1038/s41598-024-70911-8.

Food-Derived Up-Regulators and Activators of Angiotensin Converting Enzyme 2: A Review.

J Agric Food Chem. 2024 Jun 12;72(23):12896-12914. doi: 10.1021/acs.jafc.4c01594. Epub 2024 May 29.

Consensus Statement on Vitamin D Status Assessment and Supplementation: Whys, Whens, and Hows.

Endocr Rev. 2024 Sep 12;45(5):625-654. doi: 10.1210/endrev/bnae009.

Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.

J Vet Intern Med. 2023 Jul-Aug;37(4):1507-1513. doi: 10.1111/jvim.16791. Epub 2023 Jun 9.

An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.

Clin Case Rep. 2023 Mar 4;11(3):e7007. doi: 10.1002/ccr3.7007. eCollection 2023 Mar.

The One-Hundred-Year Anniversary of the Discovery of the Sunshine Vitamin D: Historical, Personal Experience and Evidence-Based Perspectives.

Nutrients. 2023 Jan 23;15(3):593. doi: 10.3390/nu15030593.

Regulation of 1 and 24 hydroxylation of vitamin D metabolites in the proximal tubule.

Exp Biol Med (Maywood). 2022 Jul;247(13):1103-1111. doi: 10.1177/15353702221091982. Epub 2022 Apr 28.