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Long-term Outcomes and Response to Treatment in Diacylglycerol Kinase Epsilon Nephropathy. by Vicky Brocklebank; Gurinder Kumar; Alexander J. Howie; Jayanthi Chandar; David V. Milford; Janet Craze; Jonathan Evans; Eric Finlay; Michael Freundlich; Daniel P. Gale; Carol Inward; Martin Mraz; Caroline Jones; William Wong; Stephen D. Marks; John Connolly; Bronte M. Corner; Kate Smith-Jackson; Patrick R. Walsh; Kevin J. Marchbank; Claire L. Harris; Valerie Wilson; Edwin K.S. Wong; Michal Malina; Sally Johnson; Neil S. Sheerin; David Kavanagh is a Medicine article available to read on EtoBox.

What is Long-term Outcomes and Response to Treatment in Diacylglycerol Kinase Epsilon Nephropathy. about?

Recessive mutations in diacylglycerol kinase epsilon (__DGKE__) display genetic pleiotropy, with pathological features reported as either thrombotic microangiopathy or membranoproliferative glomerulonephritis (MPGN), and clinical features of atypical hemolytic uremic syndrome (aHUS), nephrotic syndrome or both. Pathophysiological mechanisms and optimal management strategies have not yet been defined. In prospective and retrospective studies of aHUS referred to the United Kingdom National aHUS service and prospective studies of MPGN referred to the National Registry of Rare Kidney Diseases for MPGN we defined the incidence of DGKE aHUS as 0.009/million/year and so-called DGKE MPGN as 0.006/million/year, giving a combined incidence of 0.015/million/year. Here, we describe a cohort of sixteen individuals with DGKE nephropathy. One presented with isolated nephrotic syndrome. Analysis of pathological features reveals that __DGKE__ mutations give an MPGN-like appearance to different extents, with but more often without changes in arterioles or arteries. In 15 patients presenting with aHUS, ten had concurrent substantial proteinuria. Identified triggering events were rare but coexistent d

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Author

Vicky Brocklebank; Gurinder Kumar; Alexander J. Howie; Jayanthi Chandar; David V. Milford; Janet Craze; Jonathan Evans; Eric Finlay; Michael Freundlich; Daniel P. Gale; Carol Inward; Martin Mraz; Caroline Jones; William Wong; Stephen D. Marks; John Connolly; Bronte M. Corner; Kate Smith-Jackson; Patrick R. Walsh; Kevin J. Marchbank; Claire L. Harris; Valerie Wilson; Edwin K.S. Wong; Michal Malina; Sally Johnson; Neil S. Sheerin; David Kavanagh

Publisher

Nature Publishing Group; Elsevier ; Elsevier Inc.; Elsevier BV; ScienceOpen (ISSN 0085-2538)

Published

2020

Language

EN

Field

Medicine (Health Sciences)