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Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)

MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the MYH9 gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the c...

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Autores principales: Granak, Karol, Brndiarova, Miroslava, Vnucak, Matej, Plamenova, Ivana, Lohajova, Regina Behulova, Valencikova, Romana, Jesenak, Milos, Dedinska, Ivana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186230/
https://www.ncbi.nlm.nih.gov/pubmed/37201161
http://dx.doi.org/10.1159/000529660
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author Granak, Karol
Brndiarova, Miroslava
Vnucak, Matej
Plamenova, Ivana
Lohajova, Regina Behulova
Valencikova, Romana
Jesenak, Milos
Dedinska, Ivana
author_facet Granak, Karol
Brndiarova, Miroslava
Vnucak, Matej
Plamenova, Ivana
Lohajova, Regina Behulova
Valencikova, Romana
Jesenak, Milos
Dedinska, Ivana
author_sort Granak, Karol
collection PubMed
description MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the MYH9 gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the case of 14-year-old boy in medical follow-up from birth for thrombocytopenia. Systolic hypertension and nephrotic proteinuria were detected at preventive health check. Renal biopsy revealed sing of segmental glomerulosclerosis. Dialysis treatment was needed. Before transplantation due to the finding of chronic tonsillitis with positive bacterial capture in the culture examination, tonsillectomy was indicated. Postoperative period was complicated with arterial post-tonsillectomy hemorrhage. Six months after tonsillectomy, the patient underwent primary deceased-donor kidney transplantation without complication. Blood platelets showed fluctuating character in the zone of severe thrombocytopenia. However, no signs of bleeding were present. Three months after successful transplantation gene sequencing of whole exon was performed. The presence of the variant c.2105G>A [p.(Arg702HIS)] in exon 17 of the MYH9 gene has been detected. The variant c.2105G>A may be clinically manifested by progressive proteinuria with rapid deterioration of renal function. This case is an example of the delayed diagnosis of rare disease and highlights the usefulness of genetic testing.
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spelling pubmed-101862302023-05-17 Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders) Granak, Karol Brndiarova, Miroslava Vnucak, Matej Plamenova, Ivana Lohajova, Regina Behulova Valencikova, Romana Jesenak, Milos Dedinska, Ivana Case Rep Nephrol Dial Case and Review MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the MYH9 gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the case of 14-year-old boy in medical follow-up from birth for thrombocytopenia. Systolic hypertension and nephrotic proteinuria were detected at preventive health check. Renal biopsy revealed sing of segmental glomerulosclerosis. Dialysis treatment was needed. Before transplantation due to the finding of chronic tonsillitis with positive bacterial capture in the culture examination, tonsillectomy was indicated. Postoperative period was complicated with arterial post-tonsillectomy hemorrhage. Six months after tonsillectomy, the patient underwent primary deceased-donor kidney transplantation without complication. Blood platelets showed fluctuating character in the zone of severe thrombocytopenia. However, no signs of bleeding were present. Three months after successful transplantation gene sequencing of whole exon was performed. The presence of the variant c.2105G>A [p.(Arg702HIS)] in exon 17 of the MYH9 gene has been detected. The variant c.2105G>A may be clinically manifested by progressive proteinuria with rapid deterioration of renal function. This case is an example of the delayed diagnosis of rare disease and highlights the usefulness of genetic testing. S. Karger AG 2023-05-15 /pmc/articles/PMC10186230/ /pubmed/37201161 http://dx.doi.org/10.1159/000529660 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case and Review
Granak, Karol
Brndiarova, Miroslava
Vnucak, Matej
Plamenova, Ivana
Lohajova, Regina Behulova
Valencikova, Romana
Jesenak, Milos
Dedinska, Ivana
Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title_full Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title_fullStr Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title_full_unstemmed Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title_short Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)
title_sort unusual cause of thrombocytopenia and renal failure in a 14-year-old boy (myh9-associated disorders)
topic Case and Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186230/
https://www.ncbi.nlm.nih.gov/pubmed/37201161
http://dx.doi.org/10.1159/000529660
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