小结
定义
病史和体格检查
关键诊断因素
- inadequate sunlight exposure
- increased skin pigmentation
- age >50 years
- history of inadequate dietary and supplemental vitamin D intake
- malabsorption
- obesity
- use of certain drugs
- history of chronic kidney disease
- history of benign or malignant tumor
- bowing of the legs
- widening of the ends of the long bones
- delayed tooth eruption and early dental caries
- chest deformity
- throbbing, aching bone discomfort and/or irritability
- head sweating
- localized or generalized bone tenderness
- proximal muscle weakness
- rachitic rosary
- frontal bossing
- waddling gait
其他诊断因素
- delayed growth
- delayed achievement of motor milestones
- fatigue and malaise
- symptoms of hypocalcemia
危险因素
- inadequate sunlight exposure
- increased skin pigmentation
- age >50 years
- inadequate dietary and supplemental vitamin D intake
- malabsorption
- obesity
- use of certain drugs
- genetic mutations
- history of benign or malignant tumor
- chronic kidney disease
- granulomatous disorders
- primary hyperparathyroidism
- hyperthyroidism
诊断性检查
首要检查
- serum 25-hydroxyvitamin D
- serum calcium
- fasting serum phosphate
- serum alkaline phosphatase
需考虑的检查
- plain film radiographs of knees and wrists
- intact PTH
- serum 1,25-dihydroxyvitamin D
- bone density (DEXA) scan
治疗流程
insufficiency
deficiency
撰稿人
作者
Michael F. Holick, PhD, MD
Director Vitamin D, Skin, and Bone Research Laboratory
Director Ehlers-Danlos Clinical Research Program
Professor of Medicine, Physiology, and Biophysics and Molecular Medicine
Departments of Medicine, Physiology, and Biophysics
Section of Endocrinology, Diabetes, Nutrition and Weight Management
Boston University School of Medicine
Boston
MA
利益声明
MFH has a clinical research contract and consultant for Solius Inc., clinical and basic research contract and grant from Carbogen-Amcis, and is a consultant for Faes Farma, Adela, Ontometrics Inc., Eureka program, KBD Sperti Inc., and Biogena Inc. He is a speaker for Pulse Ltd, Abbott Inc., Sanofi Inc., Menarini Inc., PharmaEVO Pvt. Ltd., and a former board member of Bridge to Life. He also chaired the Endocrine Society’s 2011 practice guidelines on vitamin D. MFH is an author of The Vitamin D Solution and The UV Advantage. MFH is an author of references cited in this topic.
同行评议者
Linda Lester, MD, MS
Associate Professor of Medicine
Division of Endocrinology, Diabetes and Clinical Nutrition
School of Medicine
Oregon Health & Science University
Portland
OR
利益声明
LL declares that she has no competing interests.
Stefan Pilz, MD
General Practitioner
Resident at the Department of Internal Medicine
Division of Endocrinology and Nuclear Medicine
Medical University of Graz
Graz
Austria
利益声明
SP is an author of references cited in this topic.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
参考文献
关键文献
Demay MB, Pittas AG, Bikle DD, et al. Vitamin D for the prevention of disease: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2024 Jul 12;109(8):1907-47.全文 摘要
Chanchlani R, Nemer P, Sinha R, et al. An overview of rickets in children. Kidney Int Rep. 2020 Jul;5(7):980-90.全文 摘要
US Preventive Services Task Force, Krist AH, Davidson KW, et al. Screening for vitamin D deficiency in adults: US Preventive Services Task Force recommendation statement. JAMA. 2021 Apr 13;325(14):1436-42.全文 摘要
Munns CF, Shaw N, Kiely M, et al. Global consensus recommendations on prevention and management of nutritional rickets. J Clin Endocrinol Metab. 2016 Feb;101(2):394-415.全文 摘要
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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