General Medicine, Okayama Kyoritsu General Hospital, Okayama, Okayama, Japan
Toho University, Ota-ku, Tokyo, Japan.
BMJ Case Rep. 2022 Jul 20;15(7):e248245. doi: 10.1136/bcr-2021-248245.
A man in his 70s presented with impaired consciousness due to hyperammonaemia while investigating multiple tumours in his brain, chest, spine and right adrenal gland. He did not have any disorders causing hyperammonaemia, such as liver dysfunction, urea-producing bacterial infection or any medications interfering with ammonium metabolism. Blood and urine tests in addition to tumour biopsy specimens confirmed immunoglobulin D lambda multiple myeloma. His general status responded to chemotherapy using bortezomib, dexamethasone and daratumumab, and he subsequently regained full consciousness and a normalised serum ammonia level. He, unfortunately, died of refractory multiple myeloma with hyperammonaemia. The autopsy specimen revealed lambda light-chain deposits in the distal tubule epithelium with cast precipitation and intact liver cells. Urine osmolality gap analysis suggested possibly reduced urinary ammonium excretion, but further investigation is necessary to elucidate the significance of pathological renal characteristics in multiple myeloma with hyperammonaemia.
一位 70 多岁的男性因高氨血症导致意识障碍就诊，同时还发现其脑部、胸部、脊柱和右侧肾上腺有多处肿瘤。他没有任何导致高氨血症的疾病，如肝功能障碍、产尿素细菌感染或任何干扰氨代谢的药物。血液和尿液检查以及肿瘤活检标本均证实为免疫球蛋白 D 入型多发性骨髓瘤。他的一般状况对硼替佐米、地塞米松和达雷妥尤单抗联合化疗有反应，随后他恢复了完全意识和正常的血清氨水平。不幸的是，他死于难治性多发性骨髓瘤伴高氨血症。尸检标本显示远端肾小管上皮有入轻链沉积，伴有铸型沉淀和完整的肝细胞。尿渗透压间隙分析提示可能存在尿铵排泄减少，但需要进一步研究来阐明高氨血症多发性骨髓瘤中肾脏病理特征的意义。
