关键词: IgA lambda Multiple myeloma T(14;16) translocation TP53 extra copy

Mesh : Humans Female Adult Multiple Myeloma / complications genetics diagnosis drug therapy Proteinuria / etiology Translocation, Genetic Acute Kidney Injury / etiology genetics Immunoglobulin A Immunoglobulin lambda-Chains / genetics Chromosomes, Human, Pair 14 / genetics

来  源:   DOI:10.1186/s12882-024-03600-3   PDF(Pubmed)

Abstract:
BACKGROUND: Multiple myeloma (MM) is a malignant disorder characterized by monoclonal differentiated plasma cells. While it is more commonly diagnosed in elderly individuals, it can also affect younger populations, though with a lower incidence.
METHODS: Here, we present the case of a 32-year-old woman diagnosed with IgA lambda MM. She presented with fatigue, nausea, acute kidney injury (AKI) with a rapid increase in creatinine, and anemia. A kidney biopsy was done to rule out a rapidly progressive glomerular disease and a diagnosis was thus reached. A genetic workup revealed t(14;16) translocation and an extra copy of TP53. The patient received aggressive intravenous steroids and intravenous fluid resuscitation, resulting in an improvement in renal function. Treatment with daratumumab in combination with bortezomib, thalidomide, and dexamethasone was initiated and well tolerated. Despite the generally poor prognosis of IgA MM, our case emphasizes the importance of considering MM in young patients with unexplained kidney injury.
CONCLUSIONS: Early recognition and prompt intervention are essential in managing MM patients, especially in those with high-risk cytogenetic abnormalities. This case serves as a reminder for clinicians to maintain a high index of suspicion for MM, even in younger populations, when presented with unexplained kidney injury.
摘要:
背景:多发性骨髓瘤(MM)是一种恶性疾病,其特征是单克隆分化的浆细胞。虽然它更常见于老年人,它也会影响年轻人群,虽然发病率较低。
方法:这里,我们介绍了一名32岁女性被诊断患有IgAλMM的病例。她表现出疲劳,恶心,急性肾损伤(AKI)与肌酐快速增加,和贫血。进行了肾活检以排除快速进展的肾小球疾病,从而获得了诊断。遗传检查显示t(14;16)易位和TP53的额外拷贝。患者接受了积极的静脉类固醇和静脉液体复苏,导致肾功能的改善。达雷妥单抗联合硼替佐米治疗,沙利度胺,开始使用地塞米松,并且耐受性良好。尽管IgAMM的预后普遍较差,我们的病例强调了对不明原因肾损伤的年轻患者考虑MM的重要性.
结论:早期识别和及时干预对于治疗MM患者至关重要,尤其是那些有高风险的细胞遗传学异常。此病例提醒临床医生保持对MM的高度怀疑,即使在年轻人群中,当出现无法解释的肾损伤时。
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