Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the LCAT gene and characterized by a variety of symptoms including corneal opacities and kidney failure. Renal disease represents the leading cause of morbidity and mortality in FLD cases. However, the prognosis is not known and the rate of deterioration of kidney function is variable and unpredictable from patient-to-patient. In this paper, we present data from a follow-up of the large Italian cohort of FLD patients, who have been followed for an average of 12 years. We show that renal failure occurs at the median age of 46 years, with a median time to a second recurrence of 10 years. Additionally, we identify high plasma unesterified cholesterol level as a predicting factor for rapid deterioration of kidney function. In conclusion, this study highlights the severe consequences of FLD, underlines the need of correct early diagnosis and referral of patients to specialized centres, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.

中文翻译：

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家族性 LCAT 缺乏症慢性肾病的进展：意大利队列的随访。

家族性 LCAT 缺乏症 (FLD) 是一种罕见的 HDL 代谢遗传性疾病，由 LCAT 基因功能丧失突变引起，其特征是多种症状，包括角膜混浊和肾功能衰竭。肾脏疾病是 FLD 病例发病率和死亡率的主要原因。然而，预后尚不清楚，肾功能恶化的速度因患者而异且不可预测。在本文中，我们提供了来自意大利大型 FLD 患者队列的随访数据，这些患者平均随访了 12 年。我们发现肾功能衰竭发生的中位年龄为 46 岁，第二次复发的中位时间为 10 年。此外，我们将高血浆未酯化胆固醇水平确定为肾功能快速恶化的预测因素。综上所述，