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1.
Platelets ; 34(1): 2262607, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37852929

RESUMO

ANKRD26-related thrombocytopenia (ANKRD26-RT or THC2, MIM 188 000), an autosomal dominant thrombocytopenia, is unresponsive to immunosuppressive therapy and susceptible to hematological malignancies. A large number of pediatric patients are diagnosed with immune thrombocytopenia (ITP) every year; however, thrombocytopenia of genetic origin is often missed. Extensive characterization of ANKRD26-RT will help prevent missed diagnosis and misdiagnosis. Furthermore, identification of ANKRD26-RT will help in the formulation of an accurate diagnosis and a treatment plan. In our study, we report cases of two Chinese pediatric patients with ANKRD26-RT and analyze their clinical characteristics, gene mutations, and treatment modalities. Both patients were 1-year-old and presented with mild bleeding (World Health Organization(WHO) score grade 1), different degrees of platelet reduction, normal mean platelet volume, and megakaryocyte maturation impairment not obvious. Genetic tests revealed that both patients had ANKRD26 gene mutations.Patient 1 had a mutation c.-140C>G of the 5' untranslated region (UTR), and patient 2 had a mutation of c.-127A>T of 5'UTR. Both patients were treated with eltrombopag, and the treatment was no response, with no adverse reactions.


What is the background? ANKRD26-RT is an autosomal dominant thrombocytopenia which is unresponsive to immunosuppressive therapy and susceptible to hematological malignancies.It is rare and lacks specific clinical features, making misdiagnosis easy.Some studies report that eltrombopag is safe and effective for short-term treatment of the disease; however, these reports are limited.What we did and summary of findings. We retrospectively studied the clinical manifestations and diagnosis process of ANKRD26-RT and discussed the treatment efficacy of immunosuppressants and eltrombopag for its management.We found two pediatric cases of patients with ANKRD26-RT with varying degrees of thrombocytopenia, mild bleeding, normal mean platelet volume, and megakaryocyte maturation impairment that was not obvious. Immunosuppressant treatment wasunresponsiveor temporarily responsivebut not sustained , and short-term administration of eltrombopag (25 mg/day) was safe, but it did not effectively improve the patients' platelet counts.What is the impact? If patients clinically diagnosed with immune thrombocytopenia do not respond  to immunosuppressive agents, genetic testing should be conducted to exclude hereditary thrombocytopenia, and a normal mean platelet volume should not exclude the possibility of the disease.For patients with ANKRD26-RT, eltrombopag is safe for short-term use;however, 25 mg/day treatment is unresponsive.Ourreport complements data on the diagnosis and management of ANKRD26-RT disease in children.


Assuntos
Púrpura Trombocitopênica Idiopática , Trombocitopenia , Humanos , Lactente , Benzoatos/uso terapêutico , Hidrazinas/uso terapêutico , Peptídeos e Proteínas de Sinalização Intercelular/genética , Mutação , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/genética , Púrpura Trombocitopênica Idiopática/terapia , Trombocitopenia/etiologia , Trombocitopenia/genética , Resultado do Tratamento
2.
Scand J Immunol ; 95(1): e13115, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34758123

RESUMO

Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).


Assuntos
Leucócitos Mononucleares/metabolismo , Mutação/genética , Proteína da Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/imunologia , China , Análise Mutacional de DNA , Eczema , Família , Feminino , Humanos , Lactente , Leucócitos Mononucleares/imunologia , Masculino , Volume Plaquetário Médio , Trombocitopenia , Síndrome de Wiskott-Aldrich/genética
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