case report Diacylglycerol kinase Epsilon (DGKe) Nephropathy: Rare Cause of Thrombotic Microangiopathy
Lilian Monteiro Pereira Palma1*, 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