DE NOVO TINF2 C.845G>A: PATHOGENIC VARIANT IN PATIENT WITH DYSKERATOSIS CONGENITA
Kocheva SA, Gjorgjievska M, Martinova K, Antevska-Trajkova Z, Jovanovska A, Plaseska-Karanfilska D
*Corresponding Author: Svetlana Kocheva, MD, PhD, Department of Hematology and Oncology Children’s Diseases, Majka Tereza 17, Skopje, North Macedonia, tel. +38971378184 e-mail: dr.kocheva@gmail.com
page: 89

TREATMENT

The medical management of each DC patient is very complex and should take into consideration the patient’s specific needs. Patients with DC and BMF do not respond to immunosuppressive therapy, and allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for BMF. Our patient received corticosteroids for one month without any response to the therapy. After the confirmation of DC, HSCT was performed by an unrelated full matched donor. The patient experienced engraftment failure and underwent a second unrelated HSCT. One year after the second HSCT he was in a good clinical condition. Once the bone marrow failure issue was resolved, thrombocytes were around 30-40 x 109/l and the boy had a relatively good quality of life.



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