Adenine phosphoribosyltransferase deficiency after kidney transplantation: a case report and literature review
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摘要:
目的 总结肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症的诊疗经验。 方法 回顾性分析1例肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症患者的临床资料，结合文献复习总结该病临床特点、诊断、治疗和预后。 结果 患者肾活组织检查显示多数肾小管管腔内可见盐类结晶沉积，偏振光阳性。经过别嘌醇、血液透析和抗结晶等治疗移植物功能逐渐恢复。术后随访1年，患者肾功能恢复良好。 结论 肾移植术后腺嘌呤磷酸核糖基转移酶缺乏症可能导致移植物功能恢复延迟或障碍，早发现、早诊断、早治疗可延缓疾病进展，改善功能。 -
关键词:
- 腺嘌呤磷酸核糖基转移酶缺乏症 /
- 肾移植 /
- 2,8-二羟基腺嘌呤 /
- 移植物功能延迟恢复 /
- 移植物功能障碍 /
- 基因检测 /
- 血液透析 /
- 别嘌醇
Abstract:Objective To summarize the diagnosis and treatment experience of adenine phosphoribosyltransferase deficiency after kidney transplantation. Methods Clinical data of 1 patient with adenine phosphoribosyltransferase deficiency after kidney transplantation were retrospectively analyzed. Clinical characteristics, diagnosis, treatment and prognosis of adenine phosphoribosyltransferase deficiency were summarized by literature review. Results Renal biopsy showed that salt crystallization was found in most renal tubule lumen and positive results were observed under polarized light microscopy. After allopurinol, hemodialysis and anti-crystallization treatment, the graft function was gradually recovered. After postoperative 1-year follow-up, the patient's renal function was properly recovered. Conclusions Adenine phosphoribosyltransferase deficiency after kidney transplantation may lead to delayed graft function or graft dysfunction. Early detection, diagnosis and treatment may delay disease progression and improve renal function. -
图 1 患者术前双肾结石并萎缩CT冠状位图
Figure 1. Preoperative CT coronal image of the patient with double renal stones and atrophy
图 2 患者治疗过程血清肌酐和尿量的变化趋势
注：HD为血液透析；MP为甲泼尼龙冲击。
Figure 2. The change trend of serum creatinine and urine volume of the patient during treatment
图 3 移植肾组织病理学检查
注：A图为零点穿刺（苏木素-伊红染色，×200）；B图为术后49 d盐类结晶沉积（苏木素-伊红染色，×200）；C图为术后49 d PAS染色（×400）；D图为术后49 d PASM染色（×400）。
Figure 3. Histopathology of transplant kidney
表 1 APRT缺乏症患者的诊断方法和临床结局
Table 1. Diagnostic methods and clinical outcomes of patients with APRT deficiency
研究者 年份
（年）肾移植
次数年龄（岁）/
性别分析方法 诊断
时间移植物
活检特点移植物
存活时间结局 基因检测 其他 Nanmoku K, et al[6] 2017 1 28/男 98密码子从TGG到TGA无义突变 移植物穿刺活检和红外光谱 移植后 术后7 d肾小管腔内的小晶体沉积 >3个月 肾功能稳定 Li J, et al[7]
20191 47/男 未进行基因检测 移植前受者原肾穿刺活检 移植前 18个肾小球中有15个球性硬化，肾小管腔、上皮细胞质、间质有多个黄褐色晶体，伴有巨细胞、明显的肾小管萎缩和弥漫性间质纤维化。晶体呈针状、杆状和菱形形状，在偏振光下双折射 >6个月 DGF 1 52/女 纯合子c.188G>A；p.Gly63Asp突变 移植物穿刺活检 移植后 弥漫性间质炎症和纤维化，有黄褐色、双折射的管内晶体 >12个月 DGF Kaartinen K, et al[9] 2014 2 63/男 c.188G>A，p.G63D纯合突变，甘氨酸变为天冬氨酸 第2次肾移植移植物穿刺活检 移植后 肾小球形态正常，无排斥反应，但广泛的急性肾小管损伤和小管内未知类型针状晶体阻塞 >11个月 第1次移植物丢失，第2次移植物功能障碍 Brilland B,
et al[10]2015 1 25/女 未进行基因检测 FTIR① 移植后 无排斥反应，但发现ATN伴典型2,8-DHA晶体的管内沉积或结晶肾病 >18个月 肾功能稳定 George SA, et al[11]
20171 41/女 未进行基因检测 FTIR 移植后 肾小管管腔和肾小管细胞胞浆中有大量棕色结晶，慢性肾小管间质性肾炎，肾间质存在病灶，并伴有异物巨细胞 −② 肾功能稳定 Bagai S，
et al[12]
2019
144/男 APRT基因外显子3反义突变 移植物穿刺活检 移植后 肾小球正常，存在多个浅棕色环状管内晶体，在偏光显微镜下可折射，周围有异物巨细胞反应。免疫荧光显微镜检查结果阴性 >2个月 移植物功能障碍 Rajput P,
et al[13]
20201 43/男 外显子1（c.3G>C;
p.Met1）致病突变移植物穿刺活检 移植后 小管呈红棕色晶体 >2个月 移植物功能障碍 1 31/男 未进行基因检测 移植物穿刺活检 移植后 小管和间质呈红棕色晶体 >2个月 移植物功能障碍 注：①FTIR为傅里叶变换红外光谱。
②−为无数据。
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