National survey on genetic test prescription in French adult nephrologists: a call for simplification and education

Doreille, Alice; Villié, Patricia; Laurent, Michel

doi:10.1093/ckj/sfac041

Cited by 7 publications

(1 citation statement)

References 9 publications

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“…However, when all IKDs are grouped and reported together, we get a different perspective: IKDs are the third leading cause of kidney failure in Catalonia and the fourth in Madrid, Spain [ 15 ]. This may still be an underestimation, given the low uptake of genetic diagnostic tests even when they are freely available [ 16 ]. A genetic basis for CKD was also identified for one of the most common causes of CKD, so-called hypertensive nephropathy, which in African Americans is usually an IKD APOL1 variant nephropathy [ 17 ].…”

Section: The Expanding Field Of Genetic Causes Of Kidney Diseasementioning

confidence: 99%

Gain-of-function TLR7 and loss-of-function A20 gene variants identify a novel pathway for Mendelian lupus and lupus nephritis

Villalvazo

Carriazo

Rojas-Rivera

et al. 2022

Clinical Kidney Journal

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Systemic lupus erythematosus (SLE) is a chronic and inflammatory autoimmune disease of unknown cause that may cause kidney disease, i.e. lupus nephritis. Within a wider trend towards an expanding field of genetic causes of kidney disease, two recent reports have emphasized the role of Mendelian autoimmune disorders in causing lupus nephritis both in children and in young adults. Loss-of-function (LOF) variants of Tumor Necrosis Factor Alpha-Induced Protein 3 (TNFAIP3) and gain of function (GOF) variants of Toll-like receptor 7 (TLR7) cause SLE and lupus nephritis. Interestingly, both genes regulate the same signaling route, as A20, the protein encoded by TNFAIP3 inhibits NF-ĸB activation while TLR7 promoted NF-ĸB activation. Moreover, TNFAIP3 and TLR7 variants are relatively frequent, potentially contributing to polygenic risk for lupus nephritis. Finally, they both may be expressed by kidney cells, potentially contributing to the severity of kidney injury in persons who have already developed autoimmunity. The fact that both genes regulate the same pathway may lead to novel therapeutic approaches targeting the shard molecular pathway.

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Section: The Expanding Field Of Genetic Causes Of Kidney Diseasementioning

confidence: 99%