Publications by authors named "S Kunishima"
GNE encodes a rate-limiting enzyme that regulates the biosynthesis of a sialic acid precursor. As sialic acids are critical for the platelet membrane and muscle fibers, GNE variants cause GNE-related thrombocytopenia and GNE-related myopathy. Here, we report a neonate with thrombocytopenia that initially met the criteria for neonatal allo-immune thrombocytopenia (NAIT) but was resistant to treatments and then revealed novel biallelic heterozygous GNE variants without any symptoms of myopathy when diagnosed.
View Article and Find Full Text PDFArticle Synopsis
- - Congenital thrombocytopenia/platelet disorders are diverse conditions caused by genetic variations affecting platelet numbers and function, making diagnosis complicated despite recent advancements in identifying causative genes.
- - Many patients wrongly receive common treatments like glucocorticoids and splenectomy for chronic immune thrombocytopenia (ITP), highlighting the need for accurate diagnosis.
- - A study in Japan involving 245 patients identified pathogenic variants in 17 genes for over half of the participants and established that the immature platelet fraction (IPF%) can help differentiate MYH9 disorders from other groups.
Article Synopsis
- - The study examined bleeding symptoms, platelet counts, and GPIb expression in 32 patients with 22q11.2 deletion syndrome (22q11.2DS), which affects platelet function due to a genetic defect.
- - Findings revealed that adolescents/adults with 22q11.2DS had significantly lower platelet counts and GPIb expression compared to children and healthy controls, with a noted decrease in platelet counts as age increased.
- - Despite these differences, bleeding symptoms were mostly minor and did not vary significantly between children and adolescents/adults, although some patients experienced major bleeding events, highlighting the need for more research on bleeding during surgery and trauma.
MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy.
View Article and Find Full Text PDF-related disease, a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, may mimic immune thrombocytopenia in children unless suspected and carefully excluded. Here, we present a case involving a three-year-old girl with mild bleeding symptoms since infancy, previously diagnosed with chronic immune thrombocytopenia. The patient exhibited isolated thrombocytopenia and lacked any family history of thrombocytopenia, hearing impairment, or renal failure.
View Article and Find Full Text PDF