Talasemi majörde modern tedavi yaklaşımının büyüme-gelişme üzerine etkilerini inceleyen gözlemsel çalışma
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Dosyalar
Tarih
2020
Yazarlar
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Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Talasemi majör olgularında zamanında ve yeterli kan transfüzyonları ile uygun hemoglobin (Hb) ve demir şelasyonu ile demir dengesinin sürdürülmesinin komplikasyonsuz normale yakın bir yaşam kalite ve süresi sunacağı ileri sürülmektedir. Bu çalışmada, modern tıbbın sağladığı tedavi olanaklarından yararlanan hastalarımızın transfüzyon ve demir statüleri ile demir toksisitesinin en erken gösterimleri olan büyüme, pubertal ve kemik gelişimleri incelenmiştir. Çalışmaya, 2000 yılından sonra doğan ve en az 1 yıldır izlenen talasemi majör hastaları alındı. Hastaların demografik verileri izlem dosyalarından elde edildi. İzlemleri süresince ortalama yıllık transfüzyon önü Hb, transfüzyonel demir birikim ve serum ferritin değerleri hesaplandı. İzlemleri süresince demir şelasyon tedavileri ve yıllık ortalama şelatör dozları ve şelatör yan etkileri kayıt altına alındı. Büyüme ve puberte kayıtları, yıllık endokrin fonksiyon testleri, kemik dansitometre, kalp ve karaciğer magnetik rezonans görüntüleme (MRG) ve ekokardiyografileri incelendi. Çalışma grubunu 13'ü kız ve 17'i erkek 30 transfüzyona bağımlı talasemi hastası oluşturdu. Hastalar, 12,5±4,5 (3.1-18.6) yaşında olup, transfüzyon ve şelasyon süreleri sırasıyla, 11,1 ± 4,4 yıl ve 9,9 ± 4,2 yıldı. İlk demir şelasyon tedavisi 6 (%20) hastada Desferrioksamin (DFO) ve 24 hastada (%80) Deferasiroks (DFX) olup demir şelasyon başlangıcında ortanca serum ferritin (SF) 1248 μg/L idi. Sadece DFX şelasyonu ile izlenen 24 hastada, ortanca yıllık SF değerleri şelasyonun 2. yılından itibaren 1000 μg/L altında sürdürüldü. Karaciğer demir yoğunluğu (LIC) ortalama 2.1 ± 1.3 mg/g kuru ağırlık (0.9-5.4mg/g) olup hastaların kalp demir birikimi normaldi. Erkeklerde puberte başlangıcı ortalama 12.8 ± 1.1 yaş ve kızlarda ise 11.2 ± 1.3 yaş idi ve puberte bozukluğu izlenmedi. Ancak 5 hastanın (%20) büyüme geriliği büyüme hormon (GH) eksikliği ile ilişkilendirilerek GH tedavisi başlandı. Çalışma grubunun 14'ünde (%58) osteopeni ve 5'inde (%21) osteoporoz saptandı. Puberte ile boy-SDS değerlerinin normalize olma ve kemik mineral dansitesindeki (KMD) iyileşme eğilimi dikkati çekti. Sonuç olarak çalışma grubunda optimum izlem koşullarına karşın yüksek sıklıkta GH eksikliği ve osteoporoz gelişmesi, idealize edilen kriterlerin endokrin komplikayon gelişiminden koruyucu olamadığı şeklinde değerlendirilebilirdi. Ancak talasemi majörde normal popülasyona göre fizyolojik sınırlar içinde de olsa geç başlayan pubertenin, pubertal boy sıçraması ve seks hormonlarının kemik gelişimi üzerine etkilerini görmek bakımından bir gecikme nedeni olabileceği ve büyüme ve kemik gelişimindeki geriliğin görece ve geçici olabilme olasılığının da göz ardı edilemeyeceğini düşündürdü.
It is claimed that maintenance of iron balance with appropriate iron chelation and proper hemoglobin (Hb) levels with timely and adequate blood transfusions in thalassemia major will provide a quality of life and complication free survival. In this study, transfusion history and long-term iron status as well as growth, pubertal and bone development, which are the earliest manifestations of iron toxicity, were examined in thalassemia major patients. Thalassemia major patients born after 2000 and followed for at least 1 year were included in the study. The demographics of the patients were obtained from the source data. During follow-up, the mean annual pre-transfusion Hb, transfusional iron accumulation and serum ferritin values were calculated. Iron chelation treatments, annual average chelator doses, and adverse events were recorded. Growth and puberty records were evaluated. Annual endocrine function tests; bone densitometry, echocardiography as well as heart and liver iron assessed by magnetic resonance imaging (MRI) were evaluated. The study group consisted of 30 transfusion-dependent thalassemia patients, 13 female and 17 male. The patients were 12.5 ± 4.5 (3.1-18.6) years old and their transfusion and chelation duration were 11.1 ± 4.4 years and 9.9 ± 4.2 years, respectively. The first iron chelation therapy was Desferrioxamine (DFO) in 6 (20%) patients and Deferasirox (DFX) in 24 patients (80%) and the median serum ferritin (SF) at the onset of iron chelation was 1248 μg / L. In 24 patients who were chelated with DFX chelation only, the median annual SF values were maintained under 1000 μg / L since the second year of chelation. Liver iron density was 2.1 ± 1.3 mg / g dry weight (0.9-5.4mg / g) on average and heart iron accumulation of the patients was within normal ranges. The mean onset of puberty was 12.8 ± 1.1 years in males and 11.2 ± 1.3 years in females. Disorders of puberty were not determined in any patient. However, 5 patients (20%) presented with growth retardation. Growth hormone (GH) provocation tests revealed GH deficiency and all were treated with GH. Osteopenia was found in 14 (58%) and osteoporosis in 5 (21%) of the study group. The normalization trend of height-SDS and improvement in bone mineral density (BMD) was associated with initiation of puberty. In conclusion, despite the optimum follow-up conditions in the study group, high frequency of GH deficiency and osteoporosis could be interpreted that the standard of care criteria are insufficient to prevent endocrine complications. However, it would also be suggested that the late-onset puberty, even within physiological limits in patients with thalassemia major might be responsible for the delay in pubertal height jumping and bone maturation. In that case, retarded growth and bone maturation may be a relative and temporary state in patients with thalassemia major.
It is claimed that maintenance of iron balance with appropriate iron chelation and proper hemoglobin (Hb) levels with timely and adequate blood transfusions in thalassemia major will provide a quality of life and complication free survival. In this study, transfusion history and long-term iron status as well as growth, pubertal and bone development, which are the earliest manifestations of iron toxicity, were examined in thalassemia major patients. Thalassemia major patients born after 2000 and followed for at least 1 year were included in the study. The demographics of the patients were obtained from the source data. During follow-up, the mean annual pre-transfusion Hb, transfusional iron accumulation and serum ferritin values were calculated. Iron chelation treatments, annual average chelator doses, and adverse events were recorded. Growth and puberty records were evaluated. Annual endocrine function tests; bone densitometry, echocardiography as well as heart and liver iron assessed by magnetic resonance imaging (MRI) were evaluated. The study group consisted of 30 transfusion-dependent thalassemia patients, 13 female and 17 male. The patients were 12.5 ± 4.5 (3.1-18.6) years old and their transfusion and chelation duration were 11.1 ± 4.4 years and 9.9 ± 4.2 years, respectively. The first iron chelation therapy was Desferrioxamine (DFO) in 6 (20%) patients and Deferasirox (DFX) in 24 patients (80%) and the median serum ferritin (SF) at the onset of iron chelation was 1248 μg / L. In 24 patients who were chelated with DFX chelation only, the median annual SF values were maintained under 1000 μg / L since the second year of chelation. Liver iron density was 2.1 ± 1.3 mg / g dry weight (0.9-5.4mg / g) on average and heart iron accumulation of the patients was within normal ranges. The mean onset of puberty was 12.8 ± 1.1 years in males and 11.2 ± 1.3 years in females. Disorders of puberty were not determined in any patient. However, 5 patients (20%) presented with growth retardation. Growth hormone (GH) provocation tests revealed GH deficiency and all were treated with GH. Osteopenia was found in 14 (58%) and osteoporosis in 5 (21%) of the study group. The normalization trend of height-SDS and improvement in bone mineral density (BMD) was associated with initiation of puberty. In conclusion, despite the optimum follow-up conditions in the study group, high frequency of GH deficiency and osteoporosis could be interpreted that the standard of care criteria are insufficient to prevent endocrine complications. However, it would also be suggested that the late-onset puberty, even within physiological limits in patients with thalassemia major might be responsible for the delay in pubertal height jumping and bone maturation. In that case, retarded growth and bone maturation may be a relative and temporary state in patients with thalassemia major.
Açıklama
Anahtar Kelimeler
Talasemi, Şelatör, Büyüme, Transfüzyon, Thalassemia, Chelator, Growth, Transfusion
