Familial Idiopathic Glomerular Disease due to a Unique Renal-Predominant Phenotype of MYH9-Related Disease: A Case Report.

ABSTRACT:

Introduction

MYH9-related disease (MYH9-RD) is a rare genetic cause of proteinuric kidney disease. It typically manifests as a syndromic condition, presenting with macrocytic thrombocytopenia, sensorineural hearing loss (SNHL), chronic glomerulopathy, elevated liver enzymes, and early-onset bilateral cataracts. In accordance with CARE guidelines, we present a case report of a father and daughter with renal-predominant MYH9-RD due to a recently described missense variant affecting the head domain of non-muscle myosin heavy chain IIA.

Case presentations

Patient 1 was an 18-year-old woman with childhood proteinuria who presented with severely advanced kidney failure. Dialysis was initiated as a bridge to a living unrelated renal transplant (LURT). Family history was notable for

SUBMITTER: Freeman NS 

PROVIDER: S-EPMC12158415 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature