| ObjectiveTo collect the clinical information of an infant with atypical hemolytic uremic syndrome(a HUS)with nephrotic proteinuria caused by novel mutations of DGKE gene.To analyse the gene sequencing result of the patient.To summarize the relationship of phenotype and genotype of the disease.Methods1.subjects:The patient of a HUS with nephrotic level proteinuria caused by novel DGKE mutations and his parents.2.methods:(1)Clinical information collection: Clinical data of the patient who was admitted to our center in June 2020 was retrospectively collected,including the clinical manifestations,auxiliary examination results,treatment and prognosis.(2)Genetic testing and analysis: With the approval of the ethics committee of our hospital and the informed consent of the patient’s parents,peripheral blood of the proband and his parents was collected.Whole genome exon analysis was performed to the proband to find possible pathogenic mutations,and Sanger sequencing was performed to verify the mutations in the proband and his parents.And mutation pathogenicity analysis was performed.(3)Literature review: Relevant literatures about the disease were searched in the CNKI,Wanfang database and Pub Med with key words ’DGKE’ or ’diacylglycerol kinase epsilon’,’atypical hemolytic uremic syndrome’ and ’proteinuria’ published until December 2021,and the literatures were reviewed to summarize the clinical characteristics of the disease;the relationship of phenotype and genotype of the disease was summarized.Results(1)The patient was an 8-month-old boy,who was admitted to local hospital for diarrhea for 13 days,edema and urine abnormalities for 5 days.The clinical manifestations included edema,oliguria,hematuria,proteinuria of nephropathy level,anemia,thrombocytopenia,elevated serum creatinine and urea nitrogen levels,hypercholesterolemia,elevated lactate dehydrogenase level,and normal complement level.Clinical manifestations and etiological examination excluded associated infection,and the diagnosis was confrimed as a HUS.(2)The gene sequencing result showed two novel complex heterozygous mutations in the DGKE gene: c.12＿18dup GAGGCGG(p.P7 fs * 37)from the father,and c.1042 G >T(p.D348Y)from the mother,which were both confirmed harmful by software prediction.(3)7 English articles were found associated with DGKE-induced a HUS with nephrotic level proteinuria,and totally 20 patients were reported before.There was no gender difference between male and female,and onset of the disease was in infancy.3 cases developed into end stage renal disease,and 2 cases received renal transplantation.Most patients(15/20)had a HUS recurrences during the follow-up period,and about half of the children had varying degrees of renal dysfunction.The disease is extremely rare and has poor long-term prognosis.Conclusions(1)Here we report a case of a HUS with large level proteinuria caused by novel mutations of DGKE gene.(2)To the infant with proteinuria associated with a HUS,the possibility of DGKE gene mutation should be considered.(3)The relationship of genotype and phenotype of the disease was not comfirmed. |
