Meher Dayanidhi, Agarwal Vishal, Das Sambit, Choudhury Arun, Sahoo Devadarshini, Sahu Sandeep K, Prusty Binod, Das Bijay
Endocrinology, Diabetes and Metabolism, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
Cureus. 2025 Apr 5;17(4):e81778. doi: 10.7759/cureus.81778. eCollection 2025 Apr.
Idiopathic hypercalciuria (IH) is a metabolic condition characterized by excessive calcium excretion in urine without identifiable secondary causes, such as hyperparathyroidism or malignancy. It is a significant clinical entity due to its association with kidney stones, nephrocalcinosis, and osteoporosis, leading to reduced quality of life and long-term complications. This comprehensive review discusses the pathophysiology, clinical manifestations, diagnostic strategies, and management approaches for IH. The disorder arises from a multifaceted interplay of renal, intestinal, and skeletal factors. Impaired renal tubular calcium reabsorption, heightened intestinal calcium absorption, and increased bone resorption are key contributors to its pathogenesis. Genetic predispositions, including mutations in calcium-regulating receptors and transporters, further complicate its etiology. Patients often present with kidney stones, bone pain, or reduced bone mineral density, although asymptomatic cases are not uncommon. Diagnosing IH requires a thorough evaluation to exclude secondary causes, with 24-hour urinary calcium excretion serving as a crucial diagnostic marker. Management focuses on mitigating complications and improving quality of life through hydration, dietary modifications, and pharmacological therapy. Thiazide diuretics are the cornerstone of treatment, effectively reducing urinary calcium levels and preventing stone formation. Adjunctive measures include citrate supplementation and lifestyle interventions such as weight management and adequate physical activity. For patients with severe nephrolithiasis or nephrocalcinosis, surgical intervention may be necessary. Despite significant advancements, IH remains a diagnostic and therapeutic challenge due to its diverse clinical presentations and underlying mechanisms. A multidisciplinary approach, incorporating tailored medical and dietary strategies, is essential for optimal management. Future research into its genetic and molecular basis holds promise for developing more targeted interventions and improving patient outcomes. This review aims to provide a practical, up-to-date guide for clinicians managing this complex yet common metabolic disorder.
特发性高钙尿症(IH)是一种代谢性疾病,其特征是尿液中钙排泄过多,且无明确的继发原因,如甲状旁腺功能亢进或恶性肿瘤。由于它与肾结石、肾钙质沉着症和骨质疏松症相关,会导致生活质量下降和长期并发症,因此是一种重要的临床病症。这篇综述讨论了特发性高钙尿症的病理生理学、临床表现、诊断策略和管理方法。该疾病源于肾脏、肠道和骨骼因素的多方面相互作用。肾小管钙重吸收受损、肠道钙吸收增加和骨吸收增加是其发病机制的关键因素。包括钙调节受体和转运体突变在内的遗传易感性进一步使病因复杂化。患者常出现肾结石、骨痛或骨密度降低,不过无症状病例也并不少见。诊断特发性高钙尿症需要进行全面评估以排除继发原因,24小时尿钙排泄是关键的诊断标志物。管理重点是通过水化、饮食调整和药物治疗来减轻并发症并改善生活质量。噻嗪类利尿剂是治疗的基石,可有效降低尿钙水平并预防结石形成。辅助措施包括补充柠檬酸盐以及体重管理和适当体育活动等生活方式干预。对于患有严重肾结石或肾钙质沉着症的患者,可能需要手术干预。尽管取得了重大进展,但由于其临床表现多样且潜在机制复杂,特发性高钙尿症仍然是一个诊断和治疗难题。采用多学科方法,结合量身定制的医疗和饮食策略,对于优化管理至关重要。对其遗传和分子基础的未来研究有望开发出更具针对性的干预措施并改善患者预后。这篇综述旨在为管理这种复杂但常见的代谢性疾病的临床医生提供实用的最新指南。