Diamond-Blackfan Anemi hastalarında klinik ve laboratuvar bulgular

Abstract

Clinical and laboratory findings of SOLTANOVA G. about Diamond Blackfan anaemia patients at Hacettepe University, Faculty of Medicine Pediatric Hematology Unit. Pediatrics Thesis at Hacettepe University, Faculty of Medicine, Department of Pediatrics and Disease. Ankara, 2018. The objective of this study is to investigate clinical and laboratory findings and treatment responses of patients with Diamond Blackfan anaemia (DBA) in a cross-sectional manner The study group included patients who were diagnosed at Hacettepe University Department of Pediatrics, Division of Pediatric Hematology, between 1983 and 2017 and those patients who were referred to Hacettepe University Center for Fanconi Anemia and other Inherited Bone Marrow Failure Syndromes. For this purpose, the clinical and laboratory characteristics, treatment characteristics, treatment responses and treatment complications of patients were recorded using a standard data collection form. Physicians who refer their patients to our center were also requested to fill the relevant data collection form. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist Department of Genetics and also echocardiography and ultrasonography were performed to patients in order to figure out cardiac and renal anomalies. A total of 45 patients were included in the study. Twenty seven (60%) patients were female and 18 (40%) patients were male. The mean age of the patients was 10,6 ± 8.2 years (1.4-34.2 ), mean age of diagnosis was 7.3 ± 13.8 months, median age at diagnosis was 3 months (0-72 months). Thirthy nine patients (86.7%) were under one year of age at diagnosis, 6 of them (13.3%) were diagnosed after one year of age. Majority of patients (n = 34 (77.6%)) developed anemia before 6 months of age and almost one fourth developed anemia in the newborn period. The family history revealed that there was consanguinity between parents in 14 (31.1%) out of 45 patients and two patients (4.4%) had a sibling’s death history and five patients (11.1%) had a family member with DBA diagnosis. When the features of newborn period were examined, low birth weight was found as a common charactheristic. Dysmorphological examination by an experienced dysmorphologist, echocardiagraphic and abdominal ultrasonography revealed the dysmorphic findings among DBA patients as high as 86.7%. Craniofacial anomalies accounted for the most common of the congenital anomalies and followed by musculoskeletal anomalies (p¬-=0.647). There was no significant correlation between haemoglobin values at diagnosis and the number of congenital anomalies (p¬¬=0.532). Also there was no correlation between the age of anemia development and number of congenital anomalies (p¬-=0.748). Additionally, the patients were goouped according to presence and absence of congenital anomalies and ther was no difference between two groups in terms of age of anemia development and Hb levels at anemia diagnosis. Of the 44 patients who were initiated steroid treatment 26 (59,1%) was steroid responder. The 18 patients who were unresponsive to steroid treatment were put on transfusion programme. One of these 18 patients underwent hematopoietic stem cell transplantation. Eleven patients of the all study group is currently on steroid treatment (24.4%), whereas 17 (37.8%) are currently on transfusion programme. Fifteen patients (33.4%) developed spontaneous remission. One of these patients who spontaneously remitted was in the transfusion group and the remaining were in the steroid receiving patients. Remission was achieved in the first decade in 12 of the patients (70.6%). Compared to literature, our study revealed a higher remission rate (%20 vs %33.3). Steroid response rate was higher among patients who were initiated treatment before one year of age (p¬¬=0.025). Additionally, steroid use before one year of age did not interfere with vaccine responses. Initiation of steroid treatment before one year of age also did not affect the final height of these patients, compared to those who were initiated after one years of age (p¬¬=0.375). None of the patients developed malignancy during the follow-up. This study is important since reveales the national in Turkey and also important for revealing evaluations from one center.

Key words: Diamond Blackfan anaemia, pure erythroid aplasia, RPS19, glucocorticoid, steroid