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脊髓压迫作为肾衰竭患者原发性高草酸尿症的首发表现:一例病例报告及文献综述

Spinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.

作者信息

Kliea Marwa, Alsultan Mohammad, Qatleesh Safaa, Haroun Yousef, Aziz Osama Abdul, Basha Kassem

机构信息

Department of Neurology, Damascus University-Faculty of Medicine, Damascus, Syria, MA.

Department of Histopathology, Damascus University-Faculty of Medicine, Damascus, Syria.

出版信息

Kidney Med. 2024 Nov 14;7(1):100932. doi: 10.1016/j.xkme.2024.100932. eCollection 2025 Jan.

Abstract

A 50-year-old woman with kidney failure complained of back pain and an inability to walk. The medical history included hypothyroidism, nephrolithiasis, and resistant anemia aligned with several transfusions. The examination showed hepatosplenomegaly, lower limb weakness, absence of reflexes, and lack of sensations with a sensory level T6. Laboratory results showed hypercalcemia with suppression of parathyroid hormone levels. Magnetic resonance imaging showed vertebral fractures and mass-like lesions that compressed the spine at T4, T9, L4, and L5. Vertebral and bone marrow biopsies showed calcium oxalate (CaOx) depositions. Here, we reported a rare case of primary hyperoxaluria (PH) in a patient with kidney failure who presented with spinal cord compression caused by vertebral fractures and mass-like lesions. We summarized a literature review of PH patients with spinal cord compression, which showed only 3 cases. The multiorgan CaOx infiltration in this patient also caused resistant anemia, hepatosplenomegaly, extensive bone lesions, hypoparathyroidism, hypothyroidism, and hypercalcemia. The overdiagnosis of renal osteodystrophy and the negative family history could delay the diagnosis of PH in patients with kidney failure. Thus, clinicians should always consider PH in the differential diagnosis of kidney failure patients with stone events given that the early diagnosis of PH could be lifesaving.

摘要

一名50岁的肾衰竭女性患者主诉背痛且无法行走。病史包括甲状腺功能减退、肾结石以及因多次输血导致的难治性贫血。检查发现肝脾肿大、下肢无力、反射消失以及T6感觉平面以下感觉缺失。实验室检查结果显示高钙血症伴甲状旁腺激素水平受抑制。磁共振成像显示椎体骨折以及在T4、T9、L4和L5水平压迫脊髓的肿块样病变。椎体和骨髓活检显示草酸钙(CaOx)沉积。在此,我们报告了一例罕见的原发性高草酸尿症(PH)病例,该肾衰竭患者因椎体骨折和肿块样病变导致脊髓受压。我们总结了关于PH患者脊髓受压的文献综述,仅发现3例。该患者多器官CaOx浸润还导致了难治性贫血、肝脾肿大、广泛的骨病变、甲状旁腺功能减退、甲状腺功能减退以及高钙血症。肾性骨营养不良的过度诊断和阴性家族史可能会延迟肾衰竭患者PH的诊断。因此,鉴于PH的早期诊断可能挽救生命,临床医生在鉴别诊断有结石事件的肾衰竭患者时应始终考虑PH。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/11699631/8d48f34a75f7/gr1.jpg

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