Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins regulating the complement pathway; on the other hand, there are approximately 58 genes encoding distinct proteins primarily causing steroid-resistant nephrotic syndrome. We present a child with steroid-resistant nephrotic syndrome and a confirmed homozygous c.966G > A, p.Trp322Ter pathogenic variant in DGKE. This variant was also found in compound with a novel DGKE heterozygous deletion c.171delG, p.Ser58Alafs*111 in a patient from our paediatric cohort with atypical haemolytic uraemic syndrome. Both cases presented with hypertension, nephrotic proteinuria and severe acute kidney injury followed by renal recovery; however, their renal histology was different. In this paper, we deal with the clinical course of children with disrupted DGKE, including the steroid-resistant nephrotic syndrome and atypical haemolytic uraemic syndrome overlap.

非典型溶血性尿毒症综合征和类固醇抵抗性肾病综合征是儿童期可能发生的高度罕见的肾脏疾病。在某些情况下，遗传变异可能会引发这些病症，尽管在非典型溶血性尿毒症综合征中，它们大多仅赋予该疾病的易感性。在编码调节补体途径的蛋白质的基因中发现了大多数引起非典型溶血性尿毒症综合征的变异体。另一方面，大约有 58 个基因编码不同的蛋白质，主要导致类固醇抵抗性肾病综合征。我们介绍了一名患有类固醇抵抗性肾病综合征的儿童，并且在 DGKE 中确认了纯合子 c.966G > A、p.Trp322Ter 致病性变异。这种变体也被发现与一种新的DGKE 复合来自我们儿科队列的非典型溶血性尿毒症综合征患者的杂合缺失 c.171delG、p.Ser58Alafs*111。两例均出现高血压、肾病性蛋白尿和严重急性肾损伤，随后肾功能恢复；然而，他们的肾脏组织学不同。在本文中，我们讨论了DGKE中断儿童的临床过程，包括类固醇抵抗性肾病综合征和非典型溶血性尿毒症综合征重叠。