CASE REPORT article
Front. Pediatr.
Sec. Pediatric Nephrology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1502727
Novel Variant in MYH9 in a Child with Proteinuria and Thrombocytopenia: A Case Report and Literature Review
Provisionally accepted
- Sichuan Provincial Hospital for Women and Children, Chengdu, China
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There is a lack of awareness of the diagnosis and treatment of MYH9-related disorder (MYH9-RD), which is an autosomal dominant disease with heterogeneous clinical manifestations. We summarized the clinical phenotype and reported a novel variant in MYH9 in a child with focal segmental glomerulosclerosis (FSGS) and reviewed the relevant literature to better understand MYH9-RD. Unlike previous cases, this patient exhibited IgA deposition in the mesangial region, suggesting need for further investigation into prognostic and therapeutic significance of this finding. To reduce the risk of MYH9-RD misdiagnosis, we recommend assessing mean platelet diameter and granulocyte inclusions in patients with unexplained proteinuria and refractory thrombocytopenia.
Keywords: Proteinuria, Thrombocytopenia, Liver dysfunction, FSGS, MYH9-RD, Child, case report
Received: 27 Sep 2024; Accepted: 14 Apr 2025.
Copyright: © 2025 Xie, Zhu, Wang, Zhou and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ping Zhou, Sichuan Provincial Hospital for Women and Children, Chengdu, China
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