Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review
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 glomerulosclero...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-05-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1502727/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850190492577300480 |
|---|---|
| author | Dan-Feng Xie Dan-Feng Xie Lin Zhu Lin Zhu Xiao-Meng Wang Xiao-Meng Wang Yun Li Yun Li Ping Zhou Ping Zhou |
| author_facet | Dan-Feng Xie Dan-Feng Xie Lin Zhu Lin Zhu Xiao-Meng Wang Xiao-Meng Wang Yun Li Yun Li Ping Zhou Ping Zhou |
| author_sort | Dan-Feng Xie |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-880fa9c5895e41f9bd5ddc68e838d4e9 |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-880fa9c5895e41f9bd5ddc68e838d4e92025-08-20T02:15:16ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-05-011310.3389/fped.2025.15027271502727Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature reviewDan-Feng Xie0Dan-Feng Xie1Lin Zhu2Lin Zhu3Xiao-Meng Wang4Xiao-Meng Wang5Yun Li6Yun Li7Ping Zhou8Ping Zhou9Department of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women’s and Children’s Hospital, The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan, ChinaSichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, ChinaDepartment of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women’s and Children’s Hospital, The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan, ChinaSichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, ChinaDepartment of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women’s and Children’s Hospital, The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan, ChinaSichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, ChinaDepartment of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women’s and Children’s Hospital, The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan, ChinaSichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, ChinaDepartment of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women’s and Children’s Hospital, The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan, ChinaSichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, ChinaThere 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.https://www.frontiersin.org/articles/10.3389/fped.2025.1502727/fullproteinuriathrombocytopenialiver dysfunctionFSGSMYH9-RDchild |
| spellingShingle | Dan-Feng Xie Dan-Feng Xie Lin Zhu Lin Zhu Xiao-Meng Wang Xiao-Meng Wang Yun Li Yun Li Ping Zhou Ping Zhou Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review Frontiers in Pediatrics proteinuria thrombocytopenia liver dysfunction FSGS MYH9-RD child |
| title | Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review |
| title_full | Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review |
| title_fullStr | Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review |
| title_full_unstemmed | Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review |
| title_short | Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review |
| title_sort | novel variant in myh9 in a child with proteinuria and thrombocytopenia a case report and literature review |
| topic | proteinuria thrombocytopenia liver dysfunction FSGS MYH9-RD child |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1502727/full |
| work_keys_str_mv | AT danfengxie novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT danfengxie novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT linzhu novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT linzhu novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT xiaomengwang novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT xiaomengwang novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT yunli novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT yunli novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT pingzhou novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview AT pingzhou novelvariantinmyh9inachildwithproteinuriaandthrombocytopeniaacasereportandliteraturereview |