Combined oxidative phosphorylation deficiency type 17:a case report and liter-ature review
Objective To summarize the clinical manifestations of Combined oxidative phosphorylation deficien-cy(COXPD-17)with ELAC2 gene variation in a child,and to summarize the genotypic and phenotypic character-istic of ELAC2 based on literature review,so as to provide basis for diagnosis,treatment and genetic counseling for COXPD-17 patients.Methods The clinical data of a child diagnosed with COXPD-17 in PICU of our hospital in May 2024 were retrospectively analyzed.And"combined oxidative phosphorylation deficiency 17,ELAC2 gene"or"Combined oxidative phosphorylation deficiency 17,ELAC2 gene"were used as search terms to consult domestic and international databases.The clinical characteristics of COXPD-17 and the variation of ELAC2 gene were summarized.Results The patient,a 7 month-old female,exhibited symptoms such as feeding pauses and excessive sweating.The main manifestations for hospitalization included shortness of breath,facial cyanosis an-doliguria.Facial cyanosis,heart and liver enlargement were observed in physical examination.Increased lactic acid,significant elevated troponin and BNP were noticed in laboratory tests.Echocardiography showed left ven-tricular enlargement and decreased left ventricular ejection fraction.Although aggressive treatments including heart strengthening,diuresis,vasodilation,myocardial nourishing myocardium,and blood purification were per-formed,the resuscitation efforts were unsuccessful.Genetic analysis of the peripheral blood from the child and the parents showed complex heterozygous variation of ELAC2 gene:c.1585G＞A(p.Gly529Arg)and c.524A＞C(p.Asp1 75 Ala).Sanger sequencing analysis confirmed that the two loci were inherited from the parents of the patients,and neither of locus has been previously reported.The phenotypes of 28 patients including our case were documented in the literature,primarily manifestations including heart failure,cardiomyopathy,pericardial effusion,elevated lactic acid,intrauterine dysplasia,overall growth retardation,hypotonia,microcephaly,and epilepsy.Among them 20patients(71.4％)died of heart failure.The correlation between ELAC2 gene mutation site and clinical phenotype was analyzed,revealing that mutations occurring near the 3'end of tRNA were associ-ated with an earlier onset of the disease,with the majority of patients ultimately dying from heart failure.Conclusion COXPD-17 is an autosomal recessive disease involved in multi-system,and the mutation of ELAC2 gene was identified as a potential etiology.The overall prognosis for affected population is poor,as there is no specific available treatment at present,most of the deaths attributed to heart failure.Most survivors may experi-ence neurological sequelae.Therefore,early accurate diagnosis and timely prenatal consultation play a vital role in preventing the disease.
associative oxidative phosphorylation deficiency type 17ELAC2 genegene mutationmitochondri-al disorder
万方数据
维普
