Publications by authors named "L F Onuchic"
Introduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.
Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.
Minimal Change Disease and Focal Segmental Glomerulosclerosis are associated with good kidney prognosis and Thrombotic Microangiopathy with poor kidney survival in patients with COVID-19-associated nephropathies.
Am J Nephrol
December 2024
Article Synopsis
- * Among 94 patients, most were male and half had a history of hypertension; commonly observed kidney issues included collapsing glomerulopathy (CG), focal segmental glomerulosclerosis (FSGS), and thrombotic microangiopathy (TMA).
- * Results indicated that FSGS and minimal change disease (MCD) were linked to better kidney survival compared to TMA, underscoring differences in kidney complications resulting from COVID-19 within this patient group.
Article Synopsis
- * Two cases of FPLD were reported, where Patient 1 had a specific LMNA mutation and developed kidney issues, while Patient 2, with a different mutation, experienced worsening kidney function over time.
- * Both patients showed hyperinsulinemia but no diabetes, highlighting the need for ongoing monitoring of kidney health in individuals with FPLD due to the variable effects linked to LMNA mutations.
Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney failure with an incidence apparently higher in Brazil than in other countries. However, the reason for this occurrence is unknown. To better understand this, we performed an integrated analysis of clinical, histological, therapeutic, causative genetic and genetic ancestry data in a highly genetically admixed cohort of 70 children and adult patients with idiopathic CG (ICG).
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