一名女性患者中Fabry病的罕见肾脏表现。
Unusual renal presentation of Fabry disease in a female patient.
作者信息
Abaterusso Cataldo, De Biase Vincenzo, Salviati Alessandro, Fabris Antonia, Millardi Deborah, Tomei Paola, Bernich Patrizia, Lupo Antonio, Gambaro Giovanni
机构信息
Division of Nephrology, Department of Biomedical and Surgical Sciences, University of Verona, Ospedale Maggiore, P. le Stefani 1, Verona 37126, Italy.
出版信息
Nat Rev Nephrol. 2009 Jun;5(6):349-54. doi: 10.1038/nrneph.2009.71. Epub 2009 Apr 28.
BACKGROUND
A 29-year-old white woman with a family history of Fabry disease was referred to a nephrology clinic with hypertension and nephropathy. Her renal function was below normal (serum creatinine level 141 micromol/l; estimated glomerular filtration rate 41 ml/min/1.73 m2) with no proteinuria or albuminuria.
INVESTIGATIONS
Medical history, physical examination, leukocyte alpha-galactosidase A assay, laboratory tests (for antinuclear antibodies, antineutrophil cytoplasmic antibodies, lupus anticoagulant, anticardiolipin antibodies, complement and cryoglobulin), ophthalmological examination, echocardiography, brain magnetic resonance angiography, renal ultrasonography, renal color echo-Doppler scan, renal magnetic resonance angiography, renal angiography and renal biopsy.
DIAGNOSIS
Diffuse sclero-atrophic renal tissue changes and widespread renal arterio-arteriolosclerotic changes secondary to Fabry disease.
TREATMENT
Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks.
背景
一名有法布里病家族史的29岁白人女性因高血压和肾病被转诊至肾病科门诊。她的肾功能低于正常水平（血清肌酐水平为141微摩尔/升；估计肾小球滤过率为41毫升/分钟/1.73平方米），无蛋白尿或白蛋白尿。
检查
病史、体格检查、白细胞α-半乳糖苷酶A检测、实验室检查（抗核抗体、抗中性粒细胞胞浆抗体、狼疮抗凝物、抗心磷脂抗体、补体和冷球蛋白）、眼科检查、超声心动图、脑磁共振血管造影、肾脏超声检查、肾脏彩色超声多普勒扫描、肾脏磁共振血管造影、肾血管造影和肾活检。
诊断
法布里病继发的弥漫性硬化萎缩性肾组织改变和广泛的肾动脉-小动脉硬化改变。
治疗
使用血管紧张素转换酶抑制剂，并每2周用阿加糖酶β维持治疗，剂量为1毫克/千克体重。
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