A Case Report of MYH9 Gene Mutation Associated with Glomerular Minor Lesion / 罕见病研究

Non-muscle myosin heavy chain 9-related disease (MYH9-RD) is an autosomal dominant disease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chain ⅡA and leads to abnormal accumulation of myosin in cells. These further causes functional disorders of the blood, eye, ear, kidney, and liver systems. MYH9-RD displays heterogeneous kidney involvement and outcomes, but doctors still lack understandings of the mechanism and treatment strategies, owing to difficulty of conducting renal biopsies. Here, we report a case of MYH9-RD with tail fragments heterozygous mutation, which renal pathology is presented as glomerular minor lesion. Moreover, we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.

Clinical and pathological research on 148 cases of glomerular minor lesion / 中华肾脏病杂志

Objective To analyze cases diagnosed with glomerular minor lesion (GML) by light microscopy and immunofluorescence,uncover their final pathology diagnosis by electron microscopy,and thereby clarify the pathological and clinical meaning of GML.Methods One hundred and forty-eight patients receiving renal biopsy between 2003 and 2008 in Peking Union Medical College Hospital,with diagnosis of GML described by light microscopy and immunofluorescence examination were retrospectively studied.All the clinical data and pathological observation were collected and analyzed,including intact results of electron microscopic examination which were considered as golden standards of pathological diagnosis.Results The 148 patients with GML had heterogenous clinical features,with isolated hematuria as the most common presentation.Electron microscopy revealed various pathological presentations:thin basement membrane nephropathy (TBMN,66.2％),mesangial proliferative glomerulonephritis (MsPGN,20.3％),Alport syndrome (2.7％),membranous nephropathy (MN,3.4％),normal tissue (4.7％).Among GML patients with isolated hematuria,TBMN ranked as the most common pathology (76.9％).Conclusions GML is only an equivocal description of pathological manifestation by light microscopy and immunofluorescence examination.And electron microscopy is necessary to obtain accurate pathology diagnosis for patients undergoing renal biopsies.