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

Authors

  • Raquel Linares G.
  • Graciela Sakihara A.
  • Victoria López C.
  • Guisela Pimentel K.
  • Mario Encinas A.
  • Adriana Ancieta Z.
  • Angélica Ynguil M.
  • Abel Miranda B.
  • Miguel Chávez P.

DOI:

https://doi.org/10.61651/rped.2018v70n2p23-29

Keywords:

Atypical Hemolytic Uremic Syndrome, Diacylglycerol Kinase Epsilon

Abstract

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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Published

2018-12-31

How to Cite

1.
Linares G. R, Sakihara A. G, López C. V, Pimentel K. G, Encinas A. M, Ancieta Z. A, et al. 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. Rev Peru Pediatr [Internet]. 2018 Dec. 31 [cited 2024 Nov. 23];70(2):23-9. Available from: https://pediatria.pe/index.php/pedperu/article/view/295