Muir Christopher, Dodds Anthony, Samaras Katherine
Departments of Endocrinology.
Haematology and Bone Marrow Transplantation, St Vincent's Hospital, SydneyAustralia.
Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017. doi: 10.1530/EDM-16-0141. eCollection 2017.
Diamond-Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-appreciated, especially in adulthood. Further, rectal adenocarcinoma was diagnosed at age 32 years, requiring hemi-colectomy and adjuvant chemotherapy. Elevated cancer risk may warrant disease-specific screening guidelines. Genetic predictors of extra-haematopoetic complications in DBA are yet to be established.
Endocrine complications are common in DBA.Clinical vigilance is required in managing bone health of DBA patients treated with glucocorticoids.There is currently no reliable way to predict which patients will develop complications of therapy or premature malignancy related to DBA.Complaints of bone or joint pain should prompt screening with targeted magnetic resonance imaging. Osteoporosis screening should be performed routinely.
钻石-黑范贫血（DBA）是骨髓衰竭的一种罕见病因。与其他遗传性骨髓衰竭综合征相比，DBA患者发生恶性肿瘤和内分泌并发症的几率更高。我们报告一例成年女性DBA患者，该患者出现骨质疏松及双侧股骨远端缺血性坏死（AVN）。此类内分泌并发症在DBA中并不少见，但未得到充分认识，尤其是在成年患者中。此外，该患者32岁时被诊断为直肠腺癌，需行半结肠切除术及辅助化疗。癌症风险升高可能需要制定针对该疾病的筛查指南。DBA患者造血外并发症的遗传预测指标尚未确立。
内分泌并发症在DBA中很常见。对于接受糖皮质激素治疗的DBA患者，在管理其骨骼健康时需要临床警惕。目前尚无可靠方法预测哪些患者会发生与DBA相关的治疗并发症或过早发生恶性肿瘤。出现骨或关节疼痛症状时应进行针对性磁共振成像筛查。应常规进行骨质疏松筛查。
