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Insulin receptor and the kidney: Nephrocalcinosis in patients with recessive INSR mutations

Nephron Physiology Oct 30, 2017

Simpkin A, et al. - This study entailed a retrospective review of patients with insulin receptor gene (INSR) mutations to determine the role of the insulin receptor in the functioning of human kidney. Except for the observed association of INSR dysfunction with hypercalciuria and nephrocalcinosis, no other consistent abnormality of renal function was noted in this study. Furthermore, in contrast to genetically modified experimental models who had elevated blood pressure (BP) and progressive diabetic nephropathy, normotension and stable glomerular function with only moderate proteinuria were observed among study participants.
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