Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report.
Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report.
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由非典型肾小管酸中毒伴维生素 D 缺乏引起的骨软化：病例报告。
DOI：
10.1007/s13730-020-00561-y
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发表时间：
2021
期刊：
影响因子：
1
通讯作者：
Kanasaki K.
中科院分区：
文献类型：
--
作者：
Takedani K;Notsu M;Koike S;Yamauchi M;Mori T;Sohara E;Yamauchi A;Yoshikane K;Ito T;Kanasaki K.
骨软化症是一种全身性代谢性骨病。低磷血症是矿化受损的最重要原因之一。在这里，我们描述了一个病例骨软化症与非典型肾小管酸中毒。一位43岁的女性因持续的双侧胁腹疼痛而入住我院。她有脆性骨折伴维生素D缺乏的病史，并接受过活性维生素D治疗。入院时，她表现为低磷酸盐血症、低钙血症、骨特异性碱性磷酸酶水平升高、骨痛和低骨密度。多个区域的吸收也证实了骨显像，她被诊断为骨软化症。由于维生素D缺乏，开始增加阿法骨化醇剂量;她的症状仍然不稳定且未缓解。她的血气检查显示代谢性酸中毒，但阴离子间隙未增加（HCO 3 −11.8 mEq/L，阴离子间隙3.2 mEq/L）。均观察到肾小管功能障碍、肾小管损伤、肾结石和尿酸化不足，表明存在远端和近端来源的肾小管酸中毒。她还出现明显的蛋白尿、肾功能下降和下丘脑性腺功能减退。除阿法骨化醇外，还开始碳酸氢钠和口服磷补充。在此处方后，她的疼痛显着改善与酸碱平衡和电解质的恢复;肾功能不全和蛋白尿没有改变。该病例表明，除了评估钙/磷平衡和维生素D状态外，对肾小管功能和酸碱平衡的仔细评估对于骨软化症的管理至关重要。
Osteomalacia is a systemic metabolic bone disease. Hypophosphatemia is one of the most important causes of impaired mineralization. Here, we describe a case of osteomalacia associated with atypical renal tubular acidosis. A 43-year-old woman was admitted to our hospital due to sustained unrelieved bilateral flank pain. She had a history of fragile fracture with vitamin D deficiency and had been treated with active vitamin D. On admission, she presented with hypophosphatemia, hypocalcemia, high bone-specific alkaline phosphatase level, bone pain, and low bone mineral density. Multiple areas of uptake were also confirmed by bone scintigraphy, and she was diagnosed with osteomalacia. An increased dose of alfacalcidol was initiated for her vitamin D deficiency; her symptoms remained unstable and unrelieved. Her blood gas examination revealed metabolic acidosis without an increase in the anion gap (HCO3−11.8 mEq/L, anion gap 3.2 mEq/L). Tubular dysfunction, tubular damage, kidney stones, and inadequate urinary acidification were all observed, suggesting the presence of renal tubular acidosis from a combination of both distal and proximal origin. She also had overt proteinuria, decreased renal function, and hypothalamic hypogonadism. In addition to alfacalcidol, sodium bicarbonate and oral phosphorus supplementation were initiated. After this prescription, her pain dramatically improved in association with the restoration of acid–base balance and electrolytes; renal dysfunction and proteinuria were unaltered. This case indicated that careful assessments of tubular function and acid–base balance are essential for the management of osteomalacia in addition to the evaluation of the calcium/phosphate balance and vitamin D status.