Tanner Laura M, Näntö-Salonen Kirsti, Niinikoski Harri, Jahnukainen Timo, Keskinen Päivi, Saha Heikki, Kananen Kristiina, Helanterä Antero, Metso Martti, Linnanvuo Marjatta, Huoponen Kirsi, Simell Olli
Department of Pediatrics, University of Turku, Turku, Finland.
J Pediatr. 2007 Jun;150(6):631-4, 634.e1. doi: 10.1016/j.jpeds.2007.01.043.
To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients.
The clinical information in a cohort of 39 Finnish patients with LPI was analyzed retrospectively.
Proteinuria was observed in 74% of the patients and hematuria was observed in 38% of the patients during follow-up. Elevated blood pressure was diagnosed in 36% of the patients. Mean serum creatinine concentration increased in 38% of the patients, and cystatin C concentration increased in 59% of the patients. Four patients required dialysis, and severe anemia with poor response to erythropoietin and iron supplementation also developed in these patients.
Our findings suggest that renal function of patients with LPI needs to be carefully monitored, and hypertension and hyperlipidemia should be treated effectively. Special attention also should be paid to the prevention of osteoporosis and carnitine deficiency in the patients with end-stage renal disease associated with LPI. The primary disease does not prohibit treatment by dialysis and renal transplantation.
系统分析一组芬兰赖氨酸尿性蛋白不耐受（LPI）患者的肾脏受累情况，并描述4例患者终末期肾病的病程及转归。
对一组39例芬兰LPI患者的临床资料进行回顾性分析。
随访期间，74%的患者出现蛋白尿，38%的患者出现血尿。36%的患者被诊断为血压升高。38%的患者平均血清肌酐浓度升高，59%的患者胱抑素C浓度升高。4例患者需要透析，这些患者还出现了对促红细胞生成素和铁补充剂反应不佳的严重贫血。
我们的研究结果表明需要密切监测LPI患者的肾功能，有效治疗高血压和高脂血症。对于与LPI相关的终末期肾病患者，还应特别注意预防骨质疏松症和肉碱缺乏。原发性疾病并不妨碍进行透析和肾移植治疗。
