Charoenngam Nipith, Ayoub David, Holick Michael F
Section Endocrinology, Diabetes, Nutrition and Weight Management, Department of Medicine, Boston University School of Medicine, Boston, MA, USA.
Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Expert Rev Endocrinol Metab. 2022 Jul;17(4):351-364. doi: 10.1080/17446651.2022.2099374. Epub 2022 Jul 19.
Rickets is typically characterized by bone deformities due to defective bone mineralization and chondrocyte maturation in growing bones. However, infantile rickets often goes unrecognized, because the skeletal abnormalities are more subtle and often can only be detected radiologically. Nutritional rickets is a major public health concern in several regions worldwide. It is most commonly caused by vitamin D and/or calcium deficiency.
We provide an overview of historical perspective, epidemiology, and pathophysiology of nutritional rickets. Additionally, we outline diagnostic approaches and highlight challenges in radiographic diagnosis of rickets. Finally, we present strategies for prevention and treatment of rickets.
Despite the evidence from clinical databases that rickets is a rare disease, it is likely that rickets is clinically underdiagnosed as studies designed to screen healthy children for radiographic evidence of rickets reported surprisingly much higher prevalence. It has been reported that some of the radiologic features of rickets can be misinterpreted as fractures. To prevent nutritional rickets, most if not all infants and young children, should receive vitamin D from formulas and foods that are fortified with vitamin D or supplementation to achieve a serum 25-hydroxyvitamin D of at least 20 ng/mL as recommended by the Institute of Medicine. It has been recommended by the Endocrine Society that to achieve maximum bone health for children and adults, a serum concentration of 25-hydroxyvitamin D should be at least 30 ng/mL and preferably 40-60 ng/mL. Pregnant women who are unable to obtain an adequate amount of vitamin D from sunlight exposure and natural and fortified diets should take a vitamin D supplement of 1500-2000 IUs daily as recommended by the Endocrine Society since it has been demonstrated that 600 IUs daily will not maintain a circulating 25-hydroxyvitamin D of at least 20 ng/mL and most pregnant women. If lactating women take approximately 6400 IUs of vitamin D daily, they provide enough vitamin D in their milk to satisfy their infant's requirement thereby preventing rickets.
佝偻病的典型特征是由于生长中的骨骼矿化缺陷和软骨细胞成熟异常而导致骨骼畸形。然而，婴儿佝偻病常常未被识别，因为骨骼异常较为隐匿，通常只能通过放射学检查才能发现。营养性佝偻病是全球多个地区主要的公共卫生问题。它最常见的病因是维生素D和/或钙缺乏。
我们概述了营养性佝偻病的历史背景、流行病学和病理生理学。此外，我们概述了诊断方法，并强调了佝偻病放射学诊断中的挑战。最后，我们介绍了佝偻病的预防和治疗策略。
尽管临床数据库的证据表明佝偻病是一种罕见疾病，但由于旨在筛查健康儿童佝偻病放射学证据的研究报告的患病率惊人地高，所以佝偻病很可能在临床上未得到充分诊断。据报道，佝偻病的一些放射学特征可能被误诊为骨折。为预防营养性佝偻病，大多数（如果不是全部的话）婴幼儿应从添加了维生素D的配方奶粉和食品中获取维生素D，或进行补充，以达到医学研究所建议的血清25-羟维生素D水平至少为20 ng/mL。内分泌学会建议，为使儿童和成人达到最佳骨骼健康状态，血清25-羟维生素D浓度应至少为30 ng/mL，最好为40 - 60 ng/mL。由于已证明每日600 IU的维生素D无法使大多数孕妇维持至少20 ng/mL的循环25-羟维生素D水平，因此无法通过阳光照射以及天然和强化饮食获得足够维生素D的孕妇，应按照内分泌学会的建议，每日补充1500 - 2000 IU的维生素D。如果哺乳期妇女每日摄入约6400 IU的维生素D，她们乳汁中的维生素D足以满足婴儿需求，从而预防佝偻病。
