Age-dependent changes in platelet function of a patient with <i>SLFN14</i>-related macrothrombocytopenia-Reference-Cited by-同舟云学术

Age-dependent changes in platelet function of a patient with <i>SLFN14</i>-related macrothrombocytopenia

Published:2023-09-30 Issue:3 Volume:22 Page:156-165
ISSN:2414-9314
Container-title:Pediatric Hematology/Oncology and Immunopathology
language:
Short-container-title:Voprosy gematologii/onkologii i immunopatologii v pediatrii

Author:

Rashevskaya E. Yu.¹^ORCID,Polokhov D. M.²^ORCID,Fyodorova D. V.²^ORCID,Ignatova A. A.²^ORCID,Ponomarenko E. A.²^ORCID,Raykina E. V.²^ORCID,Mersiyanova I. V.²^ORCID,Poletayev A. V.²^ORCID,Trukhina E. V.²,Plyasunova S. A.²^ORCID,Zharkov P. А.²^ORCID,Panteleev M. A.³^ORCID

Affiliation:

1. The N.I. Pirogov Russian National Research Medical University, Ministry of Healthcare of the Russian Federation

2. The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

3. The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation; Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences; The M.V. Lomonosov Moscow State University

Abstract

Platelet-type bleeding disorder-20 is a rare inherited thrombocytopenia caused by mutations in the SLFN14 gene. We report a case of a female patient with SLFN14 mutation, macrothrombocytopenia, severe hemorrhagic syndrome and a positive family history who was followed up from the age of 17 to 19. The 3-year follow-up showed a tendency towards partial normalization of platelet counts (from 47 to 82 × 109/L) and morphology. Platelet size and granularity as well as the density of glycoprotein (GP) membrane receptors such as GP Ib/V/IX and GP IIb/IIIa decreased. GP IIb/IIIa activation was impaired and there were no positive changes over time. The dense granules indicators were stably elevated. The parameters of a-granules (assessed by P-selectin expression) did not differ from the control group. The proportion of procoagulant phosphatidylserine-positive platelets at rest was increased and the potential to form procoagulant platelets upon activation was reduced. As the patient grew older, her bleeding disorder symptoms abated and she showed a tendency towards normalization of platelet laboratory parameters. All investigations were performed after obtaining informed consent from the patient and her parents in accordance with the Declaration of Helsinki.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

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