CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME

CASE REPORT

Pediatrics

doi: 10.25005/2074-0581-2024-26-4-700-709

CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME

N.A. BELYKH, I.A. GLOTOVA, YU.V. DEEVA, I.V. PIZNYUR

Ryazan State Medical University named after Academician I.P. Pavlov, Ryazan, Russian Federation

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by a triad of symptoms: immunodeficiency, thrombocytopenia, and eczema. It arises from a mutation in the gene encoding the WAS protein (WASp). The disease can present with varying degrees of severity, ranging from classic WAS, which features a severe phenotype, to milder forms, such as X-linked thrombocytopenia and X-linked neutropenia. WAS primarily affects boys, although it can occur in isolated cases in girls, and it does not show any significant ethnic or geographic predisposition. This article discusses a clinical case of WAS identified in two siblings from the same family. In this study, we analyzed primary medical documentation and conducted a literature review. The syndrome is relevant for healthcare providers across various specialties, as it requires a comprehensive approach to diagnosis and ongoing monitoring. Medical genetic diagnostics play a crucial role in the diagnosis, while treatment may involve hematopoietic stem cell transplantation from a compatible donor. Additionally, this condition can be detected prenatally through appropriate medical consultation for the family.

Keywords: Children, immunodeficiency, Wiskott-Aldrich syndrome, thrombocytopenia, hematopoietic stem cell transplantation, clinical case.

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References

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Authors' information:

Belykh Natalia Anatolievna,
Doctor of Medical Sciences, Associate Professor, Head of the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Researcher ID: L-2177-2018
ORCID ID: 0000-0002-5533-0205
SPIN: 2199-6358
Е-mail: nbelyh68@mail.ru

Glotova Inna Aleksandrovna,
Student, 6th year, Faculty of Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Researcher ID: KFR-7211-2024
ORCID ID: 0000-0002-1502-4086
SPIN: 6583-7495
Е-mail: zvereva.inna2011@yandex.ru

Deeva Yuliya Vitalievna,
Assistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Researcher ID: ACT-0159-2022
ORCID ID: 0000-0003-0975-1137
Е-mail: yudeeva80@mail.ru

Piznyur Inna Vladimirovna,
Assistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Researcher ID: AAO-8423-2020
ORCID ID: 0000-0002-9267-439X
SPIN-код: 5495-1140
Е-mail: innaabramova@yandex.ru

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The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Deeva Yuliya Vitalievna
Assistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov

390026, Russian Federation, Ryazan, Vysokovoltnaya str., 9

Tel.: +7 (961) 1314872

E-mail: yudeeva80@mail.ru

This work is licensed under a Creative Commons Attribution 4.0 International License.

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