Martínez-Figueroa Carlos, Cortés-Sarabia Karen, Catalán-Nájera Hilda Guadalupe, Martínez-Alarcón Micaela
Emergency Department, Clinical Laboratory, Clínica Hospital ISSSTE, Heroico Colegio Militar 3, Centro, 40000 Iguala de la Independencia, Guerrero, Mexico.
Laboratory of Immunobiology and Molecular Diagnosis, Faculty of Biochemistry, UAGro, Chilpancingo, Guerrero, Mexico.
Adv Lab Med. 2020 May 5;1(3):20200028. doi: 10.1515/almed-2020-0028. eCollection 2020 Oct.
Fabry disease is a hereditary disease caused by a mutation in the -galactosidase A (GLA) gene resulting in the accumulation of glycosphingolipids in different organs. Timely diagnosis is crucial for the early initiation of treatment to avoid organic dysfunction secondary to lipid accumulation. In view of the above, a number of studies have been performed to assess the role of mulberry bodies as a new diagnostic tool. In this study, we report a case demonstrating the utility of this test.
We report the case of a woman of advanced age without a history of chronic disease with symptoms consistent with urinary tract infection (dysuria, pelvic pain, and frequent urination). Based on laboratory test results, a diagnosis of anemia with concomitant chronic kidney disease was established. Urine test revealed microhematuria, proteinuria, urine sediment, and the presence of lipid particles consistent with mulberry bodies.
The identification of mulberry bodies and cells in urine sediment is an easy-to-use tool potentially useful in diagnosing Fabry disease, which may contribute to initiate enzyme replacement therapy in a timely manner and reduce systemic deterioration.
法布里病是一种由α - 半乳糖苷酶A（GLA）基因突变引起的遗传性疾病，导致糖鞘脂在不同器官中蓄积。及时诊断对于尽早开始治疗以避免脂质蓄积继发的器官功能障碍至关重要。鉴于此，已经进行了多项研究来评估桑葚体作为一种新的诊断工具的作用。在本研究中，我们报告了一例证明该检测实用性的病例。
我们报告了一例老年女性病例，该患者无慢性疾病史，症状与尿路感染相符（排尿困难、盆腔疼痛和尿频）。根据实验室检查结果，确诊为贫血合并慢性肾脏病。尿检显示镜下血尿、蛋白尿、尿沉渣以及存在与桑葚体一致的脂质颗粒。
尿沉渣中桑葚体和细胞的识别是一种易于使用的工具，可能有助于诊断法布里病，这可能有助于及时启动酶替代疗法并减少全身恶化。
