Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita

Watanabe, Kentaro; Arakawa, Yuki; Kambe, Tomoka; Oguma, Eiji; Kishimoto, Hiroshi; Koh, Katsuyoshi

doi:10.1002/pbc.27476

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…In this regard, Ostronoff suggested a reduced intensity conditioning (RIC) regimen including fludarabine, cyclophosphamide, and anti-thymocyte globulin in DKC patients [49]. Within the present cohort, four of the eight cases, including our patient, underwent this regimen with only limited acute SCT-associated toxicity [34,40,42]. Hence, we suggest applying this conditioning regimen in patients with RS, but still SCT in RS remains a high-risk transplantation and should, therefore, be carried out by experienced centers only.…”

Section: Bone Marrow Failurementioning

confidence: 82%

“…Hence, SCT should be offered to patients, if required clinically, potentially resulting in improved survival in the future. Various conditioning regimens, stem cell sources, and donors have been published [3,18,20,34,36,40,42]. The authors point out a relevant treatment-related toxicity due to the underlying telomere disorder (particularly affecting the lung), and the approach should take into account experiences in DKC patients.…”

Section: Bone Marrow Failurementioning

confidence: 99%

“…Accordingly, two deaths in this series occurred due to terminal lung failure 2 years [this report] and 4.5 years [40] after the date of the successful SCT. Conditioning regimens with potential pulmonary toxicity should, therefore, be avoided to prevent worsening of occult lung disease [42,51]. Given that pulmonary interstitial fibrosis is independently attributed to TINF2mutations [49,52,53], lung disease due to insufficient telomere maintenance may be regarded as an obligatory late sequela in patients with RS also without SCT [52].…”

Section: Pulmonary Diseasementioning

confidence: 99%

See 2 more Smart Citations

Revesz syndrome revisited

Karremann

Neumaier-Probst

Schlichtenbrede

et al. 2020

Orphanet J Rare Dis

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Background Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. Methods To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. Results The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4–1.6). Retinopathy occurred typically between 6 and 18 months of age (median age 1.1 years; 95% CI 0.7–1.5). The incidence of seizures was low and was present in an estimated 20% of patients. The onset of seizures was exclusively during early childhood. The Kaplan–Meier estimate of survival was dismal (median survival 6.5 years; 95% CI 3.6–9.4), and none of the patients survived beyond the age of 12 years. Stem cell transplantation (SCT) was performed in eight children, and after a median of 22 months from SCT four of these patients were alive at the last follow up visit. Conclusion RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future.

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