Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease.

TouchREVIEWS in endocrinology Pub Date : 2021-04-01 Epub Date: 2021-04-28 DOI:10.17925/EE.2021.17.1.59
Hiya Boro, Saurav Khatiwada, Sarah Alam, Suraj Kubihal, Vinay Dogra, Velmurugan Mannar, Rajesh Khadgawat
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引用次数: 2

Abstract

Renal tubular acidosis (RTA) is a condition characterized by normal anion gap metabolic acidosis. Type 1 and type 2 RTA are the most common, and are caused by defective secretion of hydrogen ions and impaired absorption of bicarbonate, respectively. Long-standing uncorrected acidosis can lead to metabolic bone disease (MBD). Rickets and osteomalacia remain the commonest manifestations of uncorrected RTA. In addition, there can be a myriad of other skeletal manifestations like fractures, pseudofractures, secondary osteoporosis and even sclerotic bone disease. The postulated mechanism for bone involvement includes acidosis-mediated exaggerated osteoclastic bone resorption. Other contributory factors include abnormal renal handling of phosphate leading to hypophosphataemia in proximal RTA, and impaired vitamin D metabolism and action. In distal RTA, hypercalciuria and secondary hyperparathyroidism may play a key role for bone involvement. Recognizing the disease in its early course is important to prevent permanent sequelae of skeletal involvement. Most of these patients may, in fact, undergo orthopaedic interventions without primary correction of acidosis. We describe five cases who presented with MBD in varied forms. While evaluating the aetiology of MBD, they were diagnosed with RTA. Subsequently, we attempted to analyse the causes of RTA. Although the common causes were ruled out, genetic aetiology could not be ascertained due to resource constraints. RTA remains an important differential diagnosis of MBD. More awareness is required to diagnose the disease early and to treat it adequately. Our case series is an attempt to provide the clinical, biochemical and skeletal spectrum of RTA. In addition, we have attempted to provide algorithms for the approach and evaluation of RTA along with their varied causes.

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表现为严重代谢性骨病的肾小管酸中毒。
肾小管酸中毒(RTA)是一种以正常阴离子间隙代谢性酸中毒为特征的疾病。1型和2型RTA是最常见的,分别由氢离子分泌缺陷和碳酸氢盐吸收受损引起。长期未纠正的酸中毒可导致代谢性骨病(MBD)。佝偻病和骨软化仍然是未矫正RTA最常见的表现。此外,还可能有无数其他骨骼表现,如骨折、假性骨折、继发性骨质疏松症甚至硬化性骨病。假设的骨骼受累机制包括酸中毒介导的过度破骨细胞骨吸收。其他因素包括肾脏对磷酸盐的异常处理导致近端RTA低磷血症,以及维生素D代谢和作用受损。在RTA远端,高钙尿和继发性甲状旁腺功能亢进可能是骨受累的关键因素。在早期识别疾病对于预防骨骼受累的永久性后遗症是很重要的。事实上,这些患者中的大多数可能在没有酸中毒的初步矫正的情况下接受矫形外科干预。我们描述了5例不同形式的MBD。在评估MBD的病因时,他们被诊断为RTA。随后,我们试图分析RTA的原因。虽然排除了常见原因,但由于资源限制,无法确定遗传病因。RTA仍然是MBD的重要鉴别诊断。需要提高认识,以便及早诊断该病并对其进行适当治疗。我们的病例系列试图提供RTA的临床、生化和骨骼谱。此外,我们还试图为RTA及其各种原因的方法和评估提供算法。
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