MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets, thrombocytopenia, granulocyte inclusion bodies, proteinuria, and high-pitch sensorineural deafness. Nephropathy has been observed in 30% of patients with MYH9-related disorder. The characteristic features are early onset proteinuria and rapidly progressing renal disorder. However, the prognosis of MYH9 nephropathy remains unclear. Herein, we describe a 36-year-old woman who presented with proteinuria and was diagnosed with MYH9 nephropathy via renal biopsy and gene analysis. Her proteinuria improved after administration of an angiotensin II receptor blocker, but was aggravated after changing to a calcium channel blocker.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570591 | PMC |
| http://dx.doi.org/10.1016/j.krcp.2014.09.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
J Thromb Haemost
March 2025
Institute of Haematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: Myosin heavy chain 9-related diseases (MYH9-RDs) are rare autosomal dominant platelet disorders characterized by macrothrombocytopenia and leukocyte inclusion bodies. They can manifest with nonhematological complications, including deafness, nephropathy, or cataracts. Due to its rarity and its similar clinical presentation with immune thrombocytopenia (ITP), MYH9-RD is often misdiagnosed as ITP, leading to inappropriate treatment and delayed management of complications.
View Article and Find Full Text PDFMay-Hegglin anomaly associated nephropathy: Case series.
SAGE Open Med Case Rep
November 2024
Division of Nephrology, Hypertension and Transplant Nephrology, University of California, Irvine, CA, USA.
May-Hegglin anomaly (MHA) is a rare autosomal dominant disease associated with a mutation in the MYH-9 gene. It is characterized by macrothrombocytopenia and neutrophils with abnormal cytoplasmic inclusions. Clinical features of this disease include hearing loss, early cataracts, and renal failure.
View Article and Find Full Text PDFThick Ascending Limb Specific Inactivation of Myh9 and Myh10 Myosin Motors Results in Progressive Kidney Disease and Drives Sex-specific Cellular Adaptation in the Distal Nephron and Collecting Duct.
Function (Oxf)
February 2025
Enabling Technologies Group, Sanford Research, Sioux Falls, SD 57104, USA.
Our previous work established a role for myosin motor proteins MYH9 and MYH10 in trafficking of thick ascending limb (TAL) cargoes uromodulin and Na+-K+-2Cl- cotransporter NKCC2. We have generated a TAL-specific Myh9&10 conditional knockout (Myh9&10 TAL-cKO) mouse model to determine the cell autonomous roles for MYH9&10 in TAL cargo trafficking and to understand the consequence of TAL dysfunction in adult kidney. Myh9&10 TAL-cKO mice develop progressive kidney disease with pathological tubular injury confirmed by histological changes, tubular injury markers, upregulated endoplasmic reticulum (ER) stress/unfolded protein response, and higher blood urea nitrogen and serum creatinine.
View Article and Find Full Text PDFStudy on the expression and prognostic relationship of in liver cancer based on bioinformatics.
World J Clin Oncol
September 2024
Department of General Surgery, Second Affiliated Hospital of Harbin Medical University, Harbin 150000, Heilongjiang Province, China.
Article Synopsis
- Primary liver cancer is a major health issue with a poor prognosis and high recurrence rates, making early detection vital yet difficult.
- Myosin proteins, especially a specific myosin light chain, are key in the development of cancer and may serve as biomarkers for prognosis, particularly in liver hepatocellular carcinoma (LIHC).
- The study found that this myosin light chain is highly expressed in LIHC and correlates with worse overall and disease-free survival, indicating its potential as a target for further research and treatment strategies.
Unveiling the enigmatic role of MYH9 in tumor biology: a comprehensive review.
Cell Commun Signal
August 2024
Department of Urology Il, The First Hospital of Jilin University, Changchun, 130021, China.
Article Synopsis
- - Non-muscle myosin heavy chain IIA (MYH9) plays a crucial role in cellular processes like adhesion, migration, and signal transduction, by converting chemical energy into mechanical motion through its interaction with actin and ATP hydrolysis.
- - Mutations in MYH9 are linked to certain genetic disorders like platelet issues and kidney diseases, and recent research has established a connection between MYH9 and tumor development.
- - The article reviews MYH9's influence on cancer regulation and T cell function, and discusses current therapeutic strategies targeting MYH9 along with the challenges faced in this area.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!