Salgueiro G, Beltrán L M, Torres R J, Puig J G
a Division of Internal Medicine, Metabolic-Vascular Unit , La Paz University Hospital , IdiPaz , Madrid , Spain.
Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):181-4. doi: 10.1080/15257770.2013.854382.
Kidney function progressively deteriorates in patients with familial juvenile hyperuricemiac nephropathy (FJHN, OMIN 162000) and chronic renal disease is commonly associated to dyslipidemia. We report for the first time abrupt renal insufficiency in a patient with FJHN and hypertrygliceridemia following fenofibrate administration.
A 53-year-old man was diagnosed clinically with FJHN at age 24 years which was subsequently confirmed by genotypic analysis of the UMOD gene at age 40 years. His mother and two brothers suffered the disease. At that time, renal size and function were normal, as was his blood pressure and serum lipids. At age 34 years, serum urate was 8.5 mg/dL and creatinine 1.7 mg/dL (GFR, 58 mL/min/1.73 m2). He was treated with allopurinol, losartan, and lovastatin. Serum TG levels ranged between 150 and 250 mg/dL. At age 52 years, serum urate was 4.1 mg/dL, creatinine 3.2 mg/dL, LDLc 99 mg/dL (atorvastatin 40 mg/d), and TG 275 mg/dL. Fenofibrate (160 mg/d) was added. One month later, serum creatinine increased to 4.2 mg/dL and TG decreased to 125 mg/dL. He did not complain of muscle pain, weakness, or changes in urinary frequency or color and rabdomyolysis was discarded. Fenofibrate was withheld and three months later serum creatinine decreased to baseline levels (3.2 mg/dL) and TG increased to 197 mg/dL.
To our knowledge, this is the first patient with FJHN in whom fenofibrate administration was associated to a further impairment in renal function not attributable to rabdomyolysis.
家族性青少年高尿酸血症肾病（FJHN，OMIM 162000）患者的肾功能会逐渐恶化，慢性肾病通常与血脂异常有关。我们首次报告了1例FJHN和高甘油三酯血症患者在服用非诺贝特后出现急性肾功能不全的情况。
一名53岁男性在24岁时临床诊断为FJHN，随后在40岁时通过UMOD基因的基因分型分析得到确诊。他的母亲和两个兄弟也患有该病。当时，他的肾脏大小和功能正常，血压和血脂也正常。34岁时，血清尿酸为8.5 mg/dL，肌酐为1.7 mg/dL（肾小球滤过率，58 mL/min/1.73 m2）。他接受了别嘌醇、氯沙坦和洛伐他汀治疗。血清甘油三酯水平在150至250 mg/dL之间。52岁时，血清尿酸为4.1 mg/dL，肌酐为3.2 mg/dL，低密度脂蛋白胆固醇为99 mg/dL（阿托伐他汀40 mg/d），甘油三酯为275 mg/dL。加用了非诺贝特（160 mg/d）。1个月后，血清肌酐升至4.2 mg/dL，甘油三酯降至125 mg/dL。他没有肌肉疼痛、无力或尿频、尿色改变的主诉，且排除了横纹肌溶解症。停用了非诺贝特，3个月后血清肌酐降至基线水平（3.2 mg/dL），甘油三酯升至197 mg/dL。
据我们所知，这是首例服用非诺贝特后肾功能进一步损害且并非由横纹肌溶解症所致的FJHN患者。
