A possible case of carbamazepine-induced renal phospholipidosis mimicking Fabry disease
A possible case of carbamazepine-induced renal phospholipidosis mimicking Fabry disease
复制标题
卡马西平诱发肾磷脂沉积症的一例类似法布里病的可能病例
DOI：
10.1007/s10157-021-02172-y
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发表时间：
2022-01-21
影响因子：
2.3
通讯作者：
He, Yani
中科院分区：
文献类型：
--
作者：
Chen, Jia;Bai, Lihua;He, Yani
Fabry disease (FD) is a genetic disorder caused by a-galactosidase A gene mutation. Ultrastructural analysis revealing zebra bodies are the typical morphological characteristics. However, certain tricyclic antidepressants and some other medications could induce renal phospholipidosis mimicking FD. We report a 33-year-old man has been taking carbamazepine intermittently for around 10 years whenever he experiences pain and paresthesia in his fingers. He experienced mild edema on both lower limbs half a year ago. Laboratory tests revealed a fluctuating urine protein between + and ++. Electron microscopy revealed laminated "zebra body" in podocytes, which is typical of FD. However, the patient had no family history and the sequencing of the a-galactosidase gene revealed no mutations. The a-galactosidase A enzyme activity was normal at 6.03 mu mol/mL/h (normal 2.40-17.65 mu mol/mL/h), and low expression of globotriaosylceramide (Gb3) was detected in the renal tissue of this patient. Therefore, the diagnosis of Fabry disease was excluded. Considering the patient's long-term treatment with carbamazepine (blood level 1.8 mu g/ml), we speculated whether the pathological features could be associated with renal phospholipidosis caused by carbamazepine. The follow-up data showed that proteinuria was improved (fluctuated at + similar to -) after discontinuing carbamazepine for six months, which further seemed to support the above diagnosis. Therefore, we concluded that a possible case of carbamazepine-induced renal phospholipidosis, mimicking that observed in FD, has been associated with its nephrotoxicity.
