Negi Sharon, Chakurkar Vipul, Agarwal Meenal, Lobo Valentine
Renal Unit, Department of Medicine, KEM Hospital, Pune, Maharashtra, India.
Department of Medical Genetics, Gene Path Laboratories, Pune, Maharashtra, India.
Indian J Nephrol. 2020 Sep-Oct;30(5):342-345. doi: 10.4103/ijn.IJN_347_19. Epub 2020 Aug 28.
Atypical hemolytic uremic syndrome is a rare form of thrombotic microangiopathy caused by complement pathogenic variants. We describe a case of a 33-year-old woman who presented as rapidly progressing renal failure requiring dialysis and had anemia, microhematuria, low C3, normal C4 levels, and normal platelet count. Renal biopsy revealed arteriolar thrombotic microangiopathy and acute tubular injury. Patient was treated with plasma exchange and hemodialysis as required. This resulted in partial recovery at 1 month. Genetic workup by multiplex ligation-dependent probe amplification revealed a 1.5 times higher signal intensity on downstream region of gene and 50% reduced intensity of exon 6 of gene, suggesting a gene conversion event, similar to those previously reported from Spain and Portugal.
非典型溶血性尿毒症综合征是一种由补体致病变体引起的罕见血栓性微血管病形式。我们描述了一名33岁女性的病例，她表现为快速进展的肾衰竭，需要透析，伴有贫血、镜下血尿、C3降低、C4水平正常和血小板计数正常。肾活检显示小动脉血栓性微血管病和急性肾小管损伤。患者根据需要接受了血浆置换和血液透析治疗。这导致在1个月时部分恢复。通过多重连接依赖探针扩增进行的基因检测显示，基因下游区域的信号强度高1.5倍，基因外显子6的强度降低50%，提示发生了基因转换事件，类似于先前在西班牙和葡萄牙报道的情况。
