Atypical hemolytic uremic syndrome associated with mutation of diacilglycerol kinase epsilon gene. Report of 2 cases in the National Institute of Child Health – Breña, Lima
DOI:
https://doi.org/10.61651/rped.2018v70n2p23-29Keywords:
Atypical Hemolytic Uremic Syndrome, Diacylglycerol Kinase EpsilonAbstract
Introduction: Atypical haemolytic uremic syndrome (aHUS) associated with mutation of the diacylglycerol kinase epsilon gene (DGKE) is a new clinical disease, which is autosomal recessive, with few reports in the world and an incidence of 27% of the aHUS expressed in the first year of life and 50% of family cases. All patients go to ERC-5 in the second decade of life. There is no evidence of recurrence of disease in renal grafts of patients transplanted with this mutation.
Objectives: Report of 2 cases(siblings) in pediatric age with aHUS associated with mutation of the DGKE gene.
Cases report: A clinical history of patients with a diagnosis of aHUS associated with a DGKE mutation is reviewed and their clinical evolution is described in the National Institute of Child Health (Breña). A boy of 4 years old, from Huancayo, second child of a non-consanguineous young couple, with recurrent HUS since 8 months, with hematuria, nephrotic proteinuria and arterial hypertension during asymptomatic periods. A 13-year-old sister with nephrotic syndrome at 5 years of age and now in CKD-4, hematuria, hypertension and nephrotic proteinuria, with a family genetic study confirming the mutation of the two alleles of the DGKE gene in the patient and his sister; and only commitment of one of the alleles in the parents.
Conclusions: We report a new variant of DGKE gene mutation as a result of genetic studies, being in turn the first cases reported in our country.
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