Department of Pediatrics, Division of Endocrinology, Hamad General Hospital, Doha, Qatar; Department of Hematology and Oncology, National Centre for Cancer Care and Research, Hamad Medical Corporation, Weill Cornell Medicine- Qatar (WCMCQ).
Department of Pediatrics, Hamad General Hospital, Doha, Qatar.
Acta Biomed. 2021 Sep 2;92(4):e2021386. doi: 10.23750/abm.v92i4.11917.
Sickle cell disease (SCD) is traditionally associated with growth failure and delayed puberty. Wasting and stunting are still prevalent in children and adolescents with SCD, especially in developing countries. In addition, sperm abnormalities are frequent in males with SCD, with high rates of low sperm density, low sperm counts, poor motility, and increased abnormal morphology. Severe anemia, vaso-occlusive attacks with ischemic injury to different organs including the pituitary gland and testis, and nutritional factors are incriminated in the pathogenesis of defective growth, puberty, and spermatogenesis. There is great phenotypic variability among patients with SCD. The variability in the clinical severity of SCA can partly be explained by genetic modifiers, including HbF level and co-inheritance of α-thalassemia. In the past, severe disease led to early mortality. Advancements in treatment have allowed patients with SCD to have a longer and better quality of life. For most patients, the mainstays of treatment are preventive and supportive. For those with severe SCD, three major therapeutic options are currently available: erythrocyte transfusion or exchange, hydroxyurea, and hematopoietic stem cell transplantation. In this mini-review, the authors tried to recognize, delineate, and update knowledge on abnormalities due to SCD from those created by the use of different treatment modalities.
镰状细胞病(SCD)传统上与生长发育迟缓有关。在患有 SCD 的儿童和青少年中,消瘦和发育迟缓仍然很常见,尤其是在发展中国家。此外,SCD 男性精子异常频繁,精子密度低、精子计数低、运动能力差和畸形率增加的发生率较高。严重贫血、血管阻塞性发作导致包括垂体和睾丸在内的不同器官缺血性损伤以及营养因素都与生长发育迟缓、青春期和精子发生的发病机制有关。SCD 患者之间存在很大的表型变异性。SCA 临床严重程度的变异性部分可以通过遗传修饰物来解释,包括 HbF 水平和α-地中海贫血的共同遗传。过去,严重的疾病导致早期死亡。治疗的进步使 SCD 患者的寿命更长,生活质量更好。对于大多数患者,治疗的主要方法是预防和支持。对于那些患有严重 SCD 的患者,目前有三种主要的治疗选择:红细胞输血或交换、羟基脲和造血干细胞移植。在这篇迷你综述中,作者试图识别、描述和更新由于 SCD 引起的异常以及由不同治疗方法引起的异常的知识。