Familial Idiopathic Glomerular Disease due to a Unique Renal-Predominant Phenotype of MYH9-Related Disease: A Case Report
The finding of this <i>MYH9</i> p.R424Q variant confirmed a diagnosis of MYH9-RD in these patients. <i>MYH9</i> variants affecting the head domain typically result in severe thrombocytopenia. This recently reported head domain variant caused severe renal manifestations with mild thrombocytopenia and no manifestations of SNHL or cataracts in both patients, suggesting that this variant causes a renal-predominant form of MYH9-RD.
Authors
- Pietro A. Canetta (ORCID: https://orcid.org/0000-0003-1130-5486)
- Simone Sanna‐Cherchi (ORCID: https://orcid.org/0000-0002-6185-948X)
- Kelsie Bogyo (ORCID: https://orcid.org/0000-0003-1561-4323)
- Andrew Beenken (ORCID: https://orcid.org/0000-0003-1166-6716)
- Natasha Freeman (ORCID: https://orcid.org/0000-0001-8149-7888)
- Jordan G. Nestor (ORCID: https://orcid.org/0000-0003-1418-3103)
Institutions
- Columbia University Irving Medical Center (US)
Publication Details
- Journal
- Glomerular Diseases
- Published
- 2025-05-02
- DOI
- https://doi.org/10.1159/000546242
- Citations
- 2
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.59