Article
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome.
Journal of medical genetics - 25 Nov 2024
Niel Olivier, Caliment Ancuta, Hougardy Charlotte, Monestier Olivier, Dahan Karin
Abstract excerpt
In children, 15% of nephrotic syndromes are steroid-resistant (SRNS); approximately 30% of early onset SRNS have a genetic origin, with more than 100 causal genes described so far. SRNS can be syndromic, if associated with signs and symptoms affecting other organs or systems, such as the central nervous system, the heart or the eyes. Patients with SRNS are at high risk of chronic kidney disease and progressive...
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