Hepatic injury is rarely associated with undifferentiated connective tissue diseases (UCTD). We report, here, a case of a middle-aged woman with UCTD-related hepatic injury, including its case history, clinical manife...Hepatic injury is rarely associated with undifferentiated connective tissue diseases (UCTD). We report, here, a case of a middle-aged woman with UCTD-related hepatic injury, including its case history, clinical manifestations, laboratory findings, treatment and its short-term effect. The patient was admitted to the hospital with symptoms of fatigue, anorexia, low-grade fever and skin rashes. She had a past history of left knee joint replacement. Laboratory tests showed elevated levels of serum transaminase, IgG and globulin, accelerated erythrocyte sedimentation rate, eosinophilia and a high titer of antinuclear antibodies (1:320). Imaging studies showed interstitial pneumonitis and hydropericardium. Liver biopsy showed the features which were consistent with those of connective tissue diseases-related polyangitis. After treatment with a low-dose of oral prednisone, both symptoms and laboratory findings were significantly improved. UCTD-related hepatic injury should be considered in the differential diagnosis of connective tissue diseases with abnormal liver function tests. Low- dose prednisone may effectively improve both symptoms and laboratory tests.展开更多
BACKGROUND Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A(GLA). A mutation in the GLA gene leads to a loss of activity of alpha-...BACKGROUND Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A(GLA). A mutation in the GLA gene leads to a loss of activity of alpha-galactosidase A. Some drugs,such as hydroxychloroquine, can cause pathological changes similar to those usually seen in Fabry disease.CASE SUMMARY We report the case of a 41-year-old female patient who was diagnosed with undifferentiated connective tissue disease in 2008. Hydroxychloroquine treatment started 2 years ago, and proteinuria and hematuria increased. Renal biopsy demonstrated renal phospholipidosis. Zebra bodies and myelin figures were found by renal electron microscopy and were initially thought to be indicators of Fabry disease. A genetic analysis of the patient and her family members did not reveal mutations in the GLA gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.CONCLUSION This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.展开更多
目的总结Norrie病家系合并女方为未分化结缔组织病及血栓患者通过胚胎植入前单基因遗传学检测(preimplantation genetic testing for monogenic,PGT-M)助孕临床诊疗经验。方法报道通过生殖遗传、生殖医学、眼科、风湿内科及产科多学科诊...目的总结Norrie病家系合并女方为未分化结缔组织病及血栓患者通过胚胎植入前单基因遗传学检测(preimplantation genetic testing for monogenic,PGT-M)助孕临床诊疗经验。方法报道通过生殖遗传、生殖医学、眼科、风湿内科及产科多学科诊疗,对1例NDP基因第2外显子杂合缺失合并未分化结缔组织病及血栓病的患者进行家系构建、促排取卵、胚胎检测、冻融胚胎移植、羊膜腔穿刺、孕期及围产期监测的临床经过。结果该患者成功妊娠并足月分娩1名健康女婴。结论通过对该夫妇进行多学科诊疗管理,1个周期的PGT-M助孕使患者顺利获得健康的后代,减轻患者的心理和生理负担。展开更多
文摘Hepatic injury is rarely associated with undifferentiated connective tissue diseases (UCTD). We report, here, a case of a middle-aged woman with UCTD-related hepatic injury, including its case history, clinical manifestations, laboratory findings, treatment and its short-term effect. The patient was admitted to the hospital with symptoms of fatigue, anorexia, low-grade fever and skin rashes. She had a past history of left knee joint replacement. Laboratory tests showed elevated levels of serum transaminase, IgG and globulin, accelerated erythrocyte sedimentation rate, eosinophilia and a high titer of antinuclear antibodies (1:320). Imaging studies showed interstitial pneumonitis and hydropericardium. Liver biopsy showed the features which were consistent with those of connective tissue diseases-related polyangitis. After treatment with a low-dose of oral prednisone, both symptoms and laboratory findings were significantly improved. UCTD-related hepatic injury should be considered in the differential diagnosis of connective tissue diseases with abnormal liver function tests. Low- dose prednisone may effectively improve both symptoms and laboratory tests.
基金Supported by the Dongguan Social Science and Technology Development Project,No.2018507150461629
文摘BACKGROUND Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A(GLA). A mutation in the GLA gene leads to a loss of activity of alpha-galactosidase A. Some drugs,such as hydroxychloroquine, can cause pathological changes similar to those usually seen in Fabry disease.CASE SUMMARY We report the case of a 41-year-old female patient who was diagnosed with undifferentiated connective tissue disease in 2008. Hydroxychloroquine treatment started 2 years ago, and proteinuria and hematuria increased. Renal biopsy demonstrated renal phospholipidosis. Zebra bodies and myelin figures were found by renal electron microscopy and were initially thought to be indicators of Fabry disease. A genetic analysis of the patient and her family members did not reveal mutations in the GLA gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.CONCLUSION This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.
文摘目的总结Norrie病家系合并女方为未分化结缔组织病及血栓患者通过胚胎植入前单基因遗传学检测(preimplantation genetic testing for monogenic,PGT-M)助孕临床诊疗经验。方法报道通过生殖遗传、生殖医学、眼科、风湿内科及产科多学科诊疗,对1例NDP基因第2外显子杂合缺失合并未分化结缔组织病及血栓病的患者进行家系构建、促排取卵、胚胎检测、冻融胚胎移植、羊膜腔穿刺、孕期及围产期监测的临床经过。结果该患者成功妊娠并足月分娩1名健康女婴。结论通过对该夫妇进行多学科诊疗管理,1个周期的PGT-M助孕使患者顺利获得健康的后代,减轻患者的心理和生理负担。
