尼日利亚埃努古镰状细胞病的肌肉骨骼并发症

Onyemaechi N O C, Enweani U N, Maduka C O

National Orthopaedic Hospital Enugu, Nigeria.

Niger J Med. 2011 Oct-Dec;20(4):456-61.

BACKGROUND

Sickle cell disease (SCD) is one of the most important haemoglobinopathies. It is an autosomal recessive genetic condition in which a defective form of haemoglobin, haemoglobin S (HbS) results from a single amino acid substitution. The amino acid valine replaces glutamic acid at position 6 in the beta globin gene. Musculoskeletal complications are often observed in the evolution of this disease and are common causes of morbidity and disability in these patients. The objective of this study is to describe the pattern and presentation of musculoskeletal complications in sickle cell disease at the National Orthopaedic Hospital Enugu Nigeria.

METHOD

a retrospective review of the patients with musculoskeletal complications who are genotype-confirmed sicklers who were treated in our hospital from January 1993 to December 2007 was carried out. The data collected included age, sex, complications, anatomic site, grade of disease, treatment, outcome of management and follow up. Patients with incomplete data were excluded from the study.

RESULTS

Twenty seven patients with musculoskeletal complications of SCD were treated within the study period. Two patients were excluded from the study because of incomplete data. Twenty-five patients with 44 complications were analyzed. The age range was between 7 years to 30 years with a mean age of 19.2 years. Fifty six percent of patients were males. Malleolar ulcers were the commonest complications. This was followed by avascular necrosis (AVN) of the femoral head and osteomyelitis. Septic arthritis and osteomyelitis were most common in children less than 10 years while avascular necrosis and malleolar ulcers occurred more commonly in patients more than 15 years. Majority of the malleolar ulcers were treated by split skin grafting. Seventy five percent of the femoral head avascular necrosis was treated conservatively

CONCLUSION

Musculoskeletal complications are common causes of morbidity and disability in sickle cell disease. Malleolar ulcers were the commonest musculoskeletal complications. The predominant presentation in children below the age of 10 years is osteomyelitis and septic arthritis while AVN and malleolar ulcers occurred mostly in adolescents.

背景

镰状细胞病（SCD）是最重要的血红蛋白病之一。它是一种常染色体隐性遗传病，其中血红蛋白的缺陷形式血红蛋白S（HbS）由单个氨基酸取代产生。氨基酸缬氨酸取代了β珠蛋白基因中第6位的谷氨酸。在这种疾病的发展过程中经常观察到肌肉骨骼并发症，并且是这些患者发病和残疾的常见原因。本研究的目的是描述尼日利亚埃努古国家骨科医院镰状细胞病肌肉骨骼并发症的模式和表现。

方法

对1993年1月至2007年12月在我院接受治疗的经基因型确认的镰状细胞病肌肉骨骼并发症患者进行回顾性研究。收集的数据包括年龄、性别、并发症、解剖部位、疾病分级、治疗、管理结果和随访情况。数据不完整的患者被排除在研究之外。

结果

在研究期间，27例镰状细胞病肌肉骨骼并发症患者接受了治疗。由于数据不完整，2例患者被排除在研究之外。对25例有44种并发症的患者进行了分析。年龄范围在7岁至30岁之间，平均年龄为19.2岁。56%的患者为男性。踝关节溃疡是最常见的并发症。其次是股骨头缺血性坏死（AVN）和骨髓炎。化脓性关节炎和骨髓炎在10岁以下儿童中最为常见，而缺血性坏死和踝关节溃疡在15岁以上患者中更为常见。大多数踝关节溃疡采用植皮治疗。75%的股骨头缺血性坏死采用保守治疗。