A clinical case of telomeropathy with heterozygous RTEL1 variant c.3791G>A (p.Arg1264His): discussion of bone marrow transplantation and multisystem management

Cell and Organ Transplantology. 2025; 13(2):e2025132182.
DOI: 10.22494/cot.v13-2.182

A clinical case of telomeropathy with heterozygous RTEL1 variant c.3791G>A (p.Arg1264His): discussion of bone marrow transplantation and multisystem management

Grechanina О.^1,2, Miasoiedov V.³, Sadovnychenko I.³, Shkolnikova D.^1,2, Kupriyanchuk Yu.², Grechanyn Yа.⁴, Klimova O.⁵, Volyansky A.⁶, Frolova T.⁴, Molodan L.¹, Delevska V. O.¹

¹Kharkiv National Medical University, The Department of Obstetrics, Gynecology, Pediatric Gynecology and Medical Genetics, Kharkiv, Ukraine
²Municipal non-commercial enterprise of Kharkiv Regional Council “Interregional Specialized Medical-Genetic Center for Rare (Orphan) Diseases”, Kharkiv, Ukraine
³Kharkiv National Medical University, Department of Medical Biology, Kharkiv, Ukraine
⁴Kharkiv National Medical University, Department of Propaedeutic of Pediatrics No. 1, Kharkiv, Ukraine
⁵V. T. Zaitsev State Institute of General and Emergency Surgery of the National Academy of Medical Sciences of Ukraine, Kharkiv, Ukraine
⁶I. I. Mechnikov Institute of Microbiology and Immunology, Kharkiv, Ukraine

Abstract

Telomeropathies show multisystem phenotypes from dyskeratosis to severe neurological forms caused by genetic variation in genes of the telomerase complex and related proteins, in particular RTEL1.
The aim of the study was to demonstrate a personal observation of a young adult with telomeropathy and multisystem manifestations associated with RTEL1 variant c.3791G>A (p.Arg1264His) and to analyze the treatment strategy including bone marrow transplantation.
Materials and methods. The article presents the personal observation of a patient diagnosed with telomeropathy during his dynamic monitoring by a multidisciplinary team from 2020 to 2025. Common blood analyses, serum amino acid spectrum, serum homocysteine, immunogram, ultrasound investigation, computer tomography, genetic testing were performed on the patient.
Results. The patient complained of episodic fever, associated with rash, skin manifestations (hyperkeratosis, telangiectasias), arthralgias and persistent viral infections. Hepato-splenomegaly, cerebellar ataxia, thrombocytopenia were revealed during examination. Computed tomography showed signs of moderate bronchiectasis of small bronchi in the middle and lower parts of the lungs. Genetic testing identified the heterozygous variant RTEL1 mutation c.3791G>A (p.Arg1264His) and CNV affecting duplication of DOCK8 gene (exons 1-26, CN≈3) as a variant of uncertain significance (VUS). The patient was diagnosed with teomeropathy.
Conclusions. We suggest a personalized approach to bone marrow transplantation in the treatment of telomeropathy, considering not only clinical diagnosis but also individual patient characteristics, hematological, immunological and metabolic profiles.

Key words: RTEL1; telomeropathy; thrombocytopenia; bone marrow transplantation; multisystem management

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How to cite

Grechanina О, Miasoiedov V, Sadovnychenko I, Shkolnikova D, Kupriyanchuk Yu, Grechanyn Yа, Klimova O, Volyansky A, Frolova T, Molodan L, Dielievska V. A clinical case of telomeropathy with heterozygous RTEL1 variant c.3791G>A (p.Arg1264His): discussion of bone marrow transplantation and multisystem management. Cell Organ Transpl. 2025; 13(2):e2025132182. doi: 10.22494/cot.v13-2.182

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