局灶节段性肾小球硬化 中国就医指南

Focal Segmental Glomerulosclerosis (FSGS) is a histopathological pattern of kidney injury characterized by scarring (sclerosis) affecting only some (focal) glomeruli and only portions (segmental) of those affected glomeruli. It is not a single disease but rather a clinicopathologic syndrome with diverse underlying causes—including genetic mutations, viral infections (e.g., HIV), adaptive responses to reduced nephron mass, autoimmune dysregulation, and circulating permeability factors (e.g., soluble urokinase receptor, anti-CD40 antibodies). The pathogenesis involves podocyte injury and depletion, leading to disruption of the glomerular filtration barrier, proteinuria, and progressive glomerular collapse. Primary (idiopathic) FSGS is often mediated by circulating permeability factors that cause podocyte cytoskeletal rearrangement and foot process effacement; secondary forms arise from systemic conditions such as obesity, reflux nephropathy, sickle cell disease, or chronic hypertension. Epidemiologically, FSGS accounts for approximately 15–25% of adult-onset nephrotic syndrome cases in North America and Europe, and its incidence appears to be rising globally—particularly in Black populations, where genetic variants in the APOL1 gene confer markedly increased risk (up to 7–10-fold higher susceptibility). Other key risk factors include male sex, age 18–50 years, obesity (BMI ≥30), HIV infection, heroin use, and prior renal insults (e.g., reflux, obstruction). Clinically, patients commonly present with heavy proteinuria (>3.5 g/day), hypoalbuminemia, edema, and hyperlipidemia—though up to 30% may have subnephrotic proteinuria or even normal renal function at diagnosis. Hypertension and impaired GFR often develop as disease progresses. Without intervention, ~50% of untreated primary FSGS cases progress to end-stage kidney disease (ESKD) within 5–10 years. Quality of life is significantly impacted: persistent edema and fatigue limit physical activity; recurrent infections (due to immunosuppression and loss of immunoglobulins in urine) increase hospitalizations; dietary restrictions (low-sodium, low-protein), medication side effects (e.g., corticosteroid-induced weight gain, mood changes, osteoporosis), and financial burden of long-term care contribute to anxiety, depression, and social isolation. Children and young adults face particular psychosocial challenges related to school/work absenteeism, body image concerns, and fertility implications. Early diagnosis via kidney biopsy—and differentiation between primary, genetic, and secondary forms—is critical for guiding targeted therapy and prognostication.

# 局灶节段性肾小球硬化（FSGS）治疗方案与费用明细（肾内科）

一、非手术/保守治疗方案

适用人群：初发、微小病变型FSGS、激素敏感者、eGFR ≥60 mL/min/1.73m²、无严重水肿/高血压/肾病综合征并发症者。

• •一线药物治疗（3–6个月）：泼尼松（0.8–1.0 mg/kg/d，减量至维持量）+ ACEI/ARB（如缬沙坦80–160 mg/d）

• •二线免疫抑制剂（激素抵抗/依赖者）：环孢素A或他克莫司+霉酚酸钠

• •检验检查费（首年）：尿蛋白定量×4次、血肌酐/ALB/eGFR×12次、肾穿刺病理复核（必要时）：¥2,200–¥3,600

二、介入/核心治疗方案

适用人群：激素抵抗型FSGS、频繁复发、进展性蛋白尿（>3.5 g/d）、eGFR 30–59 mL/min/1.73m²且无透析指征者。

• •利妥昔单抗静脉输注（1g×2次，间隔2周）：

- 术前检查（含CD20检测、乙肝/HIV/肝肾功）：¥1,100 - 输注监护及不良反应管理：¥800–¥1,500

三、特殊复杂/晚期方案

适用人群：激素+钙调磷酸酶抑制剂+利妥昔单抗均无效、eGFR <15 mL/min/1.73m²、合并血栓/感染/心衰者。

• •个体化靶向治疗（如阿巴西普、斯帕森珠单抗临床试验入组）：免费或部分减免；自费方案约¥30,000–¥60,000/疗程（限指定中心）
• •终末期替代治疗（启动透析或评估肾移植）：腹膜透析置管术¥8,500–¥12,000；移植术前评估¥15,000–¥22,000

方案快速选择指南

• •预算有限（<¥5,000/年）：首选国产激素+ARB+定期随访；
• •中等预算（¥1万–¥3万/年）：加用环孢素A或利妥昔单抗单疗程；
• •急进性进展/耐药者（不限预算）：转诊至国家肾脏病区域医疗中心启动多靶点联合或临床试验。