Diacylglycerol kinase Epsilon (DGKe) Nephropathy: Rare Cause of Thrombotic Microangiopathy

Lilian Monteiro Pereira Palma; Nathalia Montibeler Ferreira; Vera Maria Santoro Belangero; Sumara Zuanazi Pinto Rigatto; João Bosco Pesquero; Caio Perez Gomes

Diacylglycerol kinase Epsilon (DGKe) Nephropathy: Rare Cause of Thrombotic Microangiopathy

**Lilian Monteiro Pereira Palma^1*, Nathalia Montibeler Ferreira², Vera Maria Santoro Belangero³, Sumara Zuanazi Pinto Rigatto³, João Bosco Pesquero⁴, Caio Perez Gomes⁴**

¹Nefrologia Pediátrica, Departamento de Pediatria, Universidade Estadual de Campinas, Brazil

²Pediatria, Departamento de Pediatria, Universidade Estadual de Campinas, Brazil

³Nefrologia Pediátrica, Departamento de Pediatria, Universidade Estadual de Campinas, Brazil

⁴Center for Research and Diagnosis of Genetic Diseases - Escola Paulista de Medicina - Universidade Federal de São Paulo, Brazil

^*Corresponding author: Lilian Monteiro Pereira Palma, Nefrologia Pediátrica, Departamento de Pediatria, Universidade Estadual de Campinas, Rua Tessalia Vieira de Camargo, Cidade Universitária, Campinas - SP Brazil

Received Date: 14 February 2023

Accepted Date: 20 February 2023

Published Date: 24 February 2023

Citation: Pereira Palma LM, Ferreira NM, Santoro Belangero VM, Pinto Rigatto SZ, Pesquero JB, et al. (2023) Diacylglycerol kinase epsilon (DGKe) Nephropathy: Rare cause of Thrombotic Microangiopathy. Arch Pediatr 8: 246. DOI: https://doi.org/10.29011/2575-825X.100246

Abstract

Thrombotic microangiopathy (TMA) is defined by the triad: microangiopathic hemolytic anemia, low platelet count and organ damage in the absence of clotting disorders. The most frequent cause of TMA in children is Shigatoxin Hemolytic Uremic Syndrome (STEC-HUS). Other causes include atypical HUS (dysregulation of the alternative complement pathway), pneumococcal HUS and, rarely, mutations in diacylglycerol epsilon kinase (DG KE). We present a 12-month-old young boy with TMA, hypertension and nephrotic range proteinuria. Genetic evaluation revealed a pathogenic DGKe homozygous (c.1068_1071del) variant in the patient confirming the diagnosis of DGKe nephropathy. Further genetic analyses revealed a heterozygous DGKe variant in both parents. The renal function improved with conservative management. The report illustrates that a high degree of suspicion and genetic evaluation is required to confirm the diagnosis of DGKe nephropathy occurring in the first years of life.

Keywords: Hemolytic uremic syndrome; DGKe; Thrombotic microangiopathy; Proteinuria; complement; Consanguinity