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成年期诊断的特发性青少年骨质疏松症:佐治亚州首例有记录的病例。

Idiopathic Juvenile Osteoporosis Diagnosed in Adulthood: The First Documented Case in Georgia.

作者信息

Akhvlediani Giorgi, Nakaidze Nana, Dzodzuashvili Elene, Gabidzashvili Nino, Dopidze Elene, Mikaberidze Ana, Ambriashvili Kristine

机构信息

Pulmonary and Critical Care Medicine, Tbilisi State Medical University, Tbilisi, GEO.

Biomedical Sciences, Georgian American University, Tbilisi, GEO.

出版信息

Cureus. 2025 May 8;17(5):e83707. doi: 10.7759/cureus.83707. eCollection 2025 May.

DOI:10.7759/cureus.83707
PMID:40486414
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12144662/
Abstract

Idiopathic juvenile osteoporosis (IJO) is a rare metabolic bone disorder characterized by bone fragility in otherwise healthy children and adolescents, with typical onset before puberty. To our knowledge, this represents the first documented case of IJO in Georgia, with a delayed diagnosis in adulthood despite a clinical history suggestive of earlier onset. A 24-year-old male with a history of childhood nephrolithiasis and intermittent vitamin D deficiency presented with progressive bone pain, joint crepitus, and worsening mobility. Imaging revealed severe osteopenia and osteoporosis, prompting an extensive metabolic and endocrine evaluation. Laboratory findings were largely unremarkable aside from episodic hypercalciuria, normal parathyroid hormone levels, and fluctuating vitamin D levels. Major secondary causes, including malignancy, hyperparathyroidism, thyroid dysfunction, chronic inflammatory disease, and malabsorption syndromes, were ruled out. A diagnosis of IJO was made by exclusion. The patient was started on calcium and vitamin D supplementation with close monitoring. This case highlights the diagnostic challenges of IJO when presentation extends into adulthood and underscores the importance of considering this condition in young adults with unexplained bone fragility, particularly in regions where it remains undocumented.

摘要

特发性青少年骨质疏松症(IJO)是一种罕见的代谢性骨病,其特征是在其他方面健康的儿童和青少年中出现骨脆性,典型发病于青春期前。据我们所知,这是格鲁吉亚首例有记录的IJO病例,尽管临床病史提示发病较早,但在成年期才得以延迟诊断。一名24岁男性,有儿童期肾结石病史和间歇性维生素D缺乏,出现进行性骨痛、关节摩擦音和活动能力恶化。影像学检查显示严重骨质减少和骨质疏松,促使进行广泛的代谢和内分泌评估。除了间歇性高钙尿症、正常甲状旁腺激素水平和波动的维生素D水平外,实验室检查结果大多无异常。包括恶性肿瘤、甲状旁腺功能亢进、甲状腺功能障碍、慢性炎症性疾病和吸收不良综合征在内的主要继发性病因均被排除。通过排除法诊断为IJO。患者开始补充钙和维生素D并密切监测。该病例突出了IJO在成年期出现时的诊断挑战,并强调了在患有无法解释的骨脆性的年轻人中考虑这种疾病的重要性,特别是在尚未有记录的地区。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e1f/12144662/3154fddaa59c/cureus-0017-00000083707-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e1f/12144662/3154fddaa59c/cureus-0017-00000083707-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e1f/12144662/3154fddaa59c/cureus-0017-00000083707-i01.jpg

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本文引用的文献

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Idiopathic Juvenile Osteoporosis: A Case Report and Literature Review.特发性青少年骨质疏松症:一例报告及文献综述
Cureus. 2024 Sep 1;16(9):e68361. doi: 10.7759/cureus.68361. eCollection 2024 Sep.
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Beyond kidney stones: Why pediatricians should worry about hypercalciuria.超越肾结石:儿科医生为何应关注高钙尿症。
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Early-Onset Osteoporosis.早发性骨质疏松症
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Pediatr Rheumatol Online J. 2013 Feb 19;11:6. doi: 10.1186/1546-0096-11-6. eCollection 2013.
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