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- 遗传性肾病？间质性肾炎？
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| 姓 名： | ××× | 性别： | 男 | 年龄： | 19 |
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| 简要病史： | |||||
| 肉眼检查： | |||||
男/19，因“多关节疼痛一年余，发现肌酐增高3月余”入院，患者一年多前出现双肘、双腕关节、右足第一跖趾关节非游走性疼痛，较剧烈，同时伴双侧腰痛。2月前于外院查血生化示血肌酐187umol/L，尿酸818 umol/L，后外院复查提示肌酐进行性增高586 umol/L，P-ANCA+，现为进一步治疗转入。
患者6岁时易患“感冒”，服用“康泰克、百服宁、泰诺”等（NS aiDs）可缓解。
其外公有“肾病”，母亲有兄妹共5人，其中4人“肾衰竭”3人去世。
实验室检查：血常规：RBC 3.73*10e12/L，HB111g/L，余基本正常；
尿常规：Pro-，ERY-，RBC-，尿比重1.015；
血肌酐值：（2/11）236umol/L，（8/11）325umol/L，（10/11）300umol/L
血白蛋白40g/L
P-ANCA+
自身免疫抗体，血清免疫学指标均阴性
诊疗经过：患者入院后完善相关检查，行肾穿刺活检（6/11），肾穿术后患者肌酐进行性增高，经对症处理后肌酐有所下降。该患者治疗过程中反复出现一过性血钾水平增高，（最高约5.17mmol/L）同时伴尿酸增高（最高约800 umol/L）
以下为肾穿结果：
免疫荧光：共见7个肾小球，其中4个球性硬化，IgA+--++，弥漫球性分布，颗粒状沉积于系膜区，kappa、lambda均++，COL IV链正常表达。
光镜描述：28个肾小球中21个球性硬化。部分为缺血性硬化，余肾小球呈节段系膜增生，。毛细血管袢呈轻度皱缩状，球囊壁可见增厚、分层，球囊周围纤维化。肾小管多灶性及小片状萎缩，参预非萎缩小关上皮细胞内见多量棕黄色，大小不等的颗粒沉积，部分小管上皮细胞内可见脂质空泡。肾间质多灶性纤维化伴单个核细胞浸润。小动脉内膜纤维性增厚，细动脉管壁增厚。
特殊染色：脂褐素（+），苏丹III及含铁血黄素均（-）。
图片详见文件夹
鉴于患儿有明显家族史，病变不排除遗传性肾病，特殊染色提示脂褐素阳性，是否应考虑与溶酶体相关？
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Thank you for posting this challenging case. If just based on the above photos, I only see chronic changes. You stated IgA+--++，弥漫球性分布，颗粒状沉积于系膜区. Does it mean IgA stain shows mesangial positivity of low to moderate intensity (+1-2)? If this is true, a "burned out" IgA nephropathy should be considered. Can you explain more about 特殊染色提示脂褐素阳性. Do you have electron microscopic photos?
| 以下是引用在2009-11-17 22:19:00的发言： Thank you for posting this challenging case. If just based on the above photos, I only see chronic changes. You stated IgA+--++，弥漫球性分布，颗粒状沉积于系膜区. Does it mean IgA stain shows mesangial positivity of low to moderate intensity (+1-2)? If this is true, a "burned out" IgA nephropathy should be considered. Can you explain more about 特殊染色提示脂褐素阳性. Do you have electron microscopic photos? |
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I have no experience of tubular pigmentation. Previously I only had one case of melanin accumulation within tubular epithelial cells. People think the tubular pigmentation has no impact on kidney function. In your biopsy 75% (21/28) of glomeruli are sclerotic. Ruling out glomerular disease is the first step. Don't skip the electron microscopy. It is still a necessary tool.
I also should confess that I rarely correlate my diagnosis with patient's blood chemistry, such as 尿酸 or 血钾.
In kidney pathology, there are often multiple, separate disease processes going-on at the same time. If your patient was on medications, some drugs may trigger tubulointerstitial disease, causing 一过性、反复的尿酸升高，还有高血钾. That is my guess.
