Kesici Selman, Ünal Şule, Kuşkonmaz Barış, Aytaç Selin, Çetin Mualla, Gümrük Fatma
Divisions of Pediatric Intensive Care Unit, Hacettepe University Faculty of Medicine, Ankara.
Divisions of Pediatric Hematology, Hacettepe University Faculty of Medicine, Ankara.
Turk J Pediatr. 2019;61(4):477-484. doi: 10.24953/turkjped.2019.04.002.
Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F. Fanconi anemia: a single center experience of a large cohort. Turk J Pediatr 2019; 61: 477-484. Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short stature, progressive bone marrow failure and predisposition to leukemia and solid tumors. The aim of this study was to evaluate the clinical and prognostic features of FA patients followed in a single center. The charts of FA patients were reviewed 35 years retrospectively and a total of 175 patients were included in the study in which 51.4% of patients were male. The mean age at diagnosis was 6.3±4.1 years. The incidence of microcephaly was 92.6%, skin findings were 88.0%, eye abnormality was 74.3%, thumb and radius abnormality was 53.1%, urinary system abnormality was 30.9%, skeletal system abnormality other than thumb and radius was 18.9%, genital system abnormality was 11.4%, cardiovascular system abnormality was 11.4%, ear and hearing abnormalities were 9.7% and gastrointestinal system abnormality was 5.7%. Short stature was present in 75.4% of the patients. Of the 175 patients 167 (95.4%) developed bone marrow failure during follow-up and the mean age of bone marrow failure was 7.1 ±3.7 years (1 month-old-19.8 years). The first clinical symptom was thrombocytopenia in 83.4% of patients. Malignancy developed in a total of 23 (13.1 %) patients (20 leukemia, 3 solid tumors) during follow-up. Of 175 patients, 35 (20%) underwent hematopoietic stem cell transplantation. Fatality rate among patients who underwent hematopoietic stem cell transplantation was 31.4% (11/35) and fatality rate among other patients was 63.4% (83/131; p < 0.05). Of 94 patients who deceased, death was due to bleeding in 44.7%, infection in 34%, leukemia progression in 16.0% and graft versus host disease in 5.3%. In terms of the number of patients included, this study is one of the largest cohorts with a remarkable duration of follow-up time. Hematopoietic stem cell transplantation was found to have a good impact on sur vival of patients.
凯西奇 S、于纳尔 Ş、库什孔maz B、艾塔克 S、切廷 M、居姆吕克 F。范可尼贫血：一个大型队列的单中心经验。《土耳其儿科学杂志》2019年；61: 477 - 484。范可尼贫血（FA）是一种遗传性疾病，其特征为先天性畸形、身材矮小、进行性骨髓衰竭以及易患白血病和实体瘤。本研究的目的是评估在一个单中心随访的FA患者的临床和预后特征。对FA患者的病历进行了35年的回顾性审查，共有175例患者纳入研究，其中51.4%的患者为男性。诊断时的平均年龄为6.3±4.1岁。小头畸形的发生率为92.6%，皮肤表现为88.0%，眼部异常为74.3%，拇指和桡骨异常为53.1%，泌尿系统异常为30.9%，除拇指和桡骨外的骨骼系统异常为18.9%，生殖系统异常为11.4%，心血管系统异常为11.4%，耳部和听力异常为9.7%，胃肠道系统异常为5.7%。7
