2. Gbadegesin RA, Lavin PJ, Hall G, et al. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int 2012; 81:94. 3. Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndrome in the first year of l...
Introduction Focal segmental glomerulosclerosis (FSGS) is a histopathologically defined kidney lesion. FSGS can be observed with various underlying causes, including highly penetrant monogenic renal disease. We recently identified pathogenic variants of UMOD, a gene encoding the tubular protein uromodulin,...
where glomerulosclerosis is usually focal and segmental [4,5]. It can be divided into two main types: primary FSGS and secondary FSGS, with the latter including hereditary, adaptive, infectious/inflammatory and drug
No known disease-causing mutations were identified in the families screened. PLCE1/NPHS3 mutations are not a cause of FSGS in this cohort. The absence of mutations in PLCE1/NPHS3 in this study indicates that there are additional genetic causes of FSGS and that hereditary FSGS is a ...
To our knowledge, this is the first case series on the effect of SGLT2i in patients with hereditary causes of CKD.We report data on the use of SGLT2i in a case series of patients with Alport syndrome and FSGS in respect of the early effect on the kidney function and safety of ...