Ask about this productRelated genes to: DGKE antibody
- Gene:
- DGKE NIH gene
- Name:
- diacylglycerol kinase epsilon
- Previous symbol:
- -
- Synonyms:
- DAGK6, DGK
- Chromosome:
- 17q22
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-02
- Date modifiied:
- 2015-11-09
Related products to: DGKE antibody
Related articles to: DGKE antibody
- Complement dysregulation is frequently implicated in the thrombotic microangiopathy (TMA) known as atypical hemolytic uremic syndrome (aHUS). Diacylglycerol kinase epsilon (DGKE) mutations encode a non-complement regulatory protein, and pathogenic variants in DGKE define a distinct form of aHUS. Indeed, the DGKEgene encodes a key enzyme involved in intracellular signaling. While eculizumab and other anti-C5 monoclonal antibodies are widely used in complement-related aHUS, their relevance in DGKE-associated forms remains controversial. We report a case of a patient followed from the age of eight months for suspected aHUS. Genetic testing, performed only at the age of 13 years, revealed a homozygous DGKE mutation (c.412T>C; p.C138R), despite a typical presentation, including hemolytic anemia, thrombocytopenia, and acute kidney injury. Due to severe disease progression and a fatal family history, empirical eculizumab therapy was initiated. Although the treatment resulted in a stable overall clinical status, relapses manifested as isolated nephrotic-range proteinuria (without hemolysis) on two occasions during treatment interruptions. Complement C3 levels remained consistently within the normal range. In this case, eculizumab did not prevent disease relapses, which occurred in the absence of complement activation. The persistence of proteinuria despite C5 blockade further highlights this distinction. The lack of genetic testing options has led to overtreatment in this patient with that type of mutation, with additional costs associated with the drug (eculizumab) and an increased risk of life-threatening infectious complications for the patient. - Source: PubMed
Publication date: 2026/03/31
Chelghoum SouadMesnard LaurentYousfi NadhirRostaing LionelKhellaf Ghalia - To evaluate the efficacy and safety of eculizumab, a terminal complement inhibitor, in the treatment of pediatric atypical hemolytic uremic syndrome (aHUS), and explore strategies for treatment discontinuation. This was a case series study. Clinical data of the 10 children diagnosed with aHUS who were hospitalized and treated with eculizumab at Children's Hospital affiliated to Zhengzhou University between March 2024 and September 2025 were retrospectively collected. The data included demographic characteristics, laboratory findings, genetic test results, medication process and drug discontinuation status as well as follow up (till September 2025) after drug withdrawal, etc. The clinical features and prognosis of these patients were summarized. Ten aHUS children included 7 males and 3 females, with an onset age of 61.0 (16.8, 79.8) months. Decreased complement C3 levels were observed in 7 patients, and elevated anti-factor H antibodies in 3. Genetic testing was performed in all patients and identified pathogenic variants in 3 patients: heterozygous CFH mutation, homozygous CFHR1 and CFHR3 deletions, and heterozygous DGKE mutation. The time from symptom onset to eculizumab initiation (defined as delayed administration time) was 7.5 (5.0, 10.5) d. Before treatment, the estimated glomerular filtration rate was 58.0(31.8,64.0)ml/(min·1.73 m²). After 4 weeks of eculizumab therapy, all patients were free from dialysis, and 9 cases achieved normal renal function. Platelet counts normalized after 11.5 (7.5, 17.5) d. Based on physician-patient shared decision-making model, 6 patients discontinued eculizumab, with a treatment duration of 117(53, 155) d. During a follow-up of 139(118, 440) d post-discontinuation, no relapses occurred. Five regained normal renal function, and 1 progressed to stage 2 chronic kidney disease. One patient experienced self-resolved mild limb pain during the treatment, and no other adverse events were observed. None of the children had a history of vaccination with the quadrivalent meningococcal vaccine before treatment. Due to the critical condition, all patients received oral azithromycin for infection prophylaxis, and no case of meningococcal infection occurred. Eculizumab can significantly improve renal function, reduce the incidence of renal failure in the treatment of pediatric atypical hemolytic uremic syndrome and is associated with high safety and few adverse reactions. The decision on treatment discontinuation can be made following the physician-patient shared decision-making model, with the timing reasonably chosen based on the patient's clinical condition and family financial status. - Source: PubMed
Zhang Y XLiu PLiu Y JLi Y LCao G HTian MLiu C H - Hemolytic uremic syndrome (HUS) in infancy may be difficult to classify because infection-associated HUS and genetic thrombotic microangiopathies (TMAs) can present with similar findings. We report a 7-month-old boy admitted with pneumonia, anemia, thrombocytopenia, and acute kidney injury. Radiologically confirmed pneumonia, elevated CRP levels, positive nasopharyngeal pneumococcal PCR testing initially suggested pneumococcal-associated HUS; however, microangiopathic hemolysis and anuria persisted despite infection control, dialysis, plasma exchange, and complement inhibition therapy. Genetic analysis subsequently revealed a homozygous DGKE mutation, establishing the diagnosis of complement-independent TMA. During follow-up, the course was further complicated by secondary hemophagocytic lymphohistiocytosis (HLH) triggered by severe inflammation and catheter-related sepsis. This case demonstrates that an apparent infectious trigger does not exclude an underlying genetic etiology in infants with TMA and highlights the importance of early genetic evaluation and awareness of hyperinflammatory complications such as HLH in patients with persistent disease activity. - Source: PubMed
Publication date: 2026/04/14
Cevizli DeryaLeventoğlu EmreKırkaş Özlem GülYılmaz İsaKocaoğlu Çelebi - Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy resulting from the dysregulation of the alternative complement pathway. Pathogenic variants in complement regulators (e.g., CFH, CFI, CD46, THBD), effectors (C3, CFB), CFHR genes, and non-complement genes (e.g., DGKE, INF2), as well as anti-factor H autoantibodies, play significant roles in disease pathogenesis. Furthermore, numerous CFH-CFHR hybrid genes are increasingly recognized as significant contributors to aHUS pathogenesis. Among these, epidemiological data on CD46-associated aHUS remain limited. Here, we present a case of aHUS associated with a rare novel homozygous mutation in the CD46 gene (c.1127 + 2T > A). - Source: PubMed
Publication date: 2025/09/22
Hu BenjinWang XuWang XianZhang HongchuanMei DongdongGuo XiaohuaLi Xiaowei - Lipid homeostasis is vital for maintaining testicular function and male fertility, but the specific contributions of lipid-regulating enzymes remain unclear. This study shows that DGKη, although highly expressed in the testis, is not essential for spermatogenesis but modulates testicular lipid metabolism in response to dietary conditions. - Source: PubMed
Publication date: 2025/09/08
Zhou ShushuRen ChuanZhu MingcongZuo HanZhang XinZhao ShuqinHe XiaojinWang XinLiu Mingxi