Takashi Koike, Shohei Yamamoto, Mayuko Shibata, Kohei Otsuka, Yumiko Sugishita, Ryota Kaneko, Naoko Kawabata, Sachio Fujita, Kosuke Akiyama, Daisuke Toyama, Miharu Yabe, Atsushi Uchiyama, Hiromasa Yabe
Tokai University School of Medicine
Japan
Pediatric Blood and Cancer
Pediatr Blood Canc 2025;
DOI: 10.1002/pbc.31757
Abstract
Background: Dyskeratosis congenita (DKC) is a genetic disorder frequently complicated by bone marrow failure (BMF). Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for BMF in DKC. However, late complications of DKC, especially pulmonary fibrosis (PF), pose significant challenges.
Procedures: This retrospective study analyzed the outcomes of seven patients with DKC who underwent HSCT at our institution from 1985 to 2020.
Results: Median age of these patients was 6 (range: 2-11) years. Conditioning regimens included cyclophosphamide, fludarabine, anti-thymocyte globulin, and 3-Gy thoracoabdominal irradiation with lung shielding. Stem cells were sourced from siblings (n = 3) and unrelated (n = 4) bone marrow. All patients achieved engraftment. Late complications, such as PF, pulmonary arteriovenous malformations, liver fibrosis (LF), and hepatopulmonary syndrome, were observed. Four patients (57%) died at a median age of 10 (range: 8.2-13.3) years post-HSCT from PF, LF, and intestinal bleeding.
Conclusions: These findings emphasize the high risk of late mortality associated with pulmonary and hepatic complications post-HSCT in DKC. Further studies are warranted to elucidate the risk factors contributing to such late complications.
Category
Pulmonary Arteriovenous Malformations
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
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