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. 2019 May 14;12(5):641-644.
doi: 10.1093/ckj/sfz043. eCollection 2019 Oct.

Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications

Maria Izabel de Holanda  1 , Caio Perez Gomes  2 , Stanley de Almeida Araujo  3 , David Campos Wanderley  3 , Renato George Eick  4 , Gustavo Coelho Dantas  5 , Michele Karen Dos Santos Tino  6 , João Bosco Pesquero  2 , Lilian Monteiro Pereira Palma  7
Affiliations

Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications

Maria Izabel de Holanda et al. Clin Kidney J. .

Abstract

A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18 months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life.

Keywords: DGKe; atypical hemolytic uremic syndrome; eculizumab; plasma exchange; thrombotic microangiopathy.

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Figures

FIGURE 1
FIGURE 1
First Renal Biopsy at age 16 years (before treatment with eculizumab), February 6th, 2016. (A) - Reduplication of glomerular basement membrane and mesangiolysis - arrow (silver, x400); (B) - Corrugated and reduplication of glomerular basement membrane (Gömöri’s trichrome, x400); (C) - Intimal thickening of small artery (periodic acid -Schiff, x400); (D) - Immunofluorescence microscopy shows arterial wall staining for C3 (x400).
FIGURE 2
FIGURE 2
Second Renal biopsy: After 18 months of eculizumab treatment- April 4th, 2018. (A) Corrugated and reduplication of glomerular basement membrane and mesangial expansion -(silver, x400). (B) Glomerular mesangial expansion (hematoxylin and eosin, x400). (C) Intimal thickening of small artery (silver, x400). (D) Immunofluorescence microscopy shows arterial wall staining for C3 (x400).
FIGURE 3
FIGURE 3
Family Pedigree. Index case (II-1) developed first symptoms of aHUS at six months. His genetic diagnosis prompted the analysis of the family members, uncovering the presence of the variant p.356AspLysfs*6(c.1069_107del) in all of them.
See this image and copyright information in PMC

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