Various phenotypes of disease associated with mutated DGKE gene |
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| Affiliation: | 1. Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin 2, Ireland;2. Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK;1. Department of Pediatrics, Pediatric Nephrology Unit, Instituto da Crianca, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil;2. Nephrology Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil;3. Department of Pediatrics-Nephrology, 4 Center for Computational Medicine and Bioinformatics, University of Michigan School of Medicine, Ann Arbor, MI;1. Institut de Transplantation Urologie Néphrologie, Centre Hospitalier Universitaire de Nantes, Nantes, France;2. Centre de Recherche en Transplantation et Immunologie UMR 1064, INSERM, Université de Nantes, Nantes, France;3. Assistance Publique-Hôpitaux de Paris, Laboratory of Immunology, Hôpital Européen Georges Pompidou, Paris, France;4. Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland |
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| Abstract: | Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins regulating the complement pathway; on the other hand, there are approximately 58 genes encoding distinct proteins primarily causing steroid-resistant nephrotic syndrome. We present a child with steroid-resistant nephrotic syndrome and a confirmed homozygous c.966G > A, p.Trp322Ter pathogenic variant in DGKE. This variant was also found in compound with a novel DGKE heterozygous deletion c.171delG, p.Ser58Alafs*111 in a patient from our paediatric cohort with atypical haemolytic uraemic syndrome. Both cases presented with hypertension, nephrotic proteinuria and severe acute kidney injury followed by renal recovery; however, their renal histology was different. In this paper, we deal with the clinical course of children with disrupted DGKE, including the steroid-resistant nephrotic syndrome and atypical haemolytic uraemic syndrome overlap. |
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| Keywords: | Atypical haemolytic uraemic syndrome Children Next-generation sequencing SRNS/aHUS overlap Steroid-resistant nephrotic syndrome AADAG" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" arachidonic acid-containing diacylglycerol aHUS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" atypical haemolytic uraemic syndrome AP" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" alternative complement pathway AKI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" acute kidney injury CVVHD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" continuous veno-venous haemodialysis DGKε" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" diacylglycerol kinase-epsilon FSGS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0105" }," $$" :[{" #name" :" text" ," _" :" focal segmental glomerulosclerosis GFR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0115" }," $$" :[{" #name" :" text" ," _" :" glomerular filtration rate MPGN" },{" #name" :" keyword" ," $" :{" id" :" kwrd0125" }," $$" :[{" #name" :" text" ," _" :" membranoproliferative glomerulonephritis NGS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0135" }," $$" :[{" #name" :" text" ," _" :" next-generation sequencing PD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0145" }," $$" :[{" #name" :" text" ," _" :" peritoneal dialysis RRT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0155" }," $$" :[{" #name" :" text" ," _" :" renal replacement therapy SRNS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0165" }," $$" :[{" #name" :" text" ," _" :" steroid-resistant nephrotic syndrome TMA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0175" }," $$" :[{" #name" :" text" ," _" :" thrombotic microangiopathy |
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