Grundy R G, Woods K A, Savage M O, Evans J P
Haemoglobinopathy Clinic, Queen Elizabeth Hospital for Children, London.
Arch Dis Child. 1994 Aug;71(2):128-32. doi: 10.1136/adc.71.2.128.
Disturbances of growth and development in patients with thalassaemia receiving hypertransfusion programmes are well recognised and are most likely to be due to iron overload. The extent of endocrine dysfunction was investigated in a group of 18 patients thought to have been treated by acceptable modern standards, 11 of whom could be considered as well chelated. Assessment of growth and puberty showed a wide variation in height SD scores with five patients having significantly short stature. Most patients are progressing through puberty normally with the exception of two boys with marked pubertal delay. The most prominent finding was that growth hormone responses to glucagon stimulation were significantly impaired in all of the patients with iron overload. Basal endocrine assessment showed primary hypothyroidism in two patients aged 16.8 and 12.9 years with plasma thyroxine-concentrations of 86 and 59 nmol/l (normal range 65-165 nmol/l) and plasma thyroid stimulating hormone 10.2 and 30.3 mU/l (normal range 0.5-5 mU/l). One patient had diabetes mellitus. These results show that even when ideal management is sought a significant amount of endocrine damage occurs; surveillance of these patients is thus essential.
接受强化输血方案的地中海贫血患者的生长发育障碍已得到充分认识，很可能是由于铁过载所致。在一组18名被认为按照现代可接受标准进行治疗的患者中，对内分泌功能障碍的程度进行了调查，其中11名患者可被视为螯合良好。生长和青春期评估显示身高标准差评分差异很大，5名患者身材明显矮小。除了两名青春期明显延迟的男孩外，大多数患者青春期发育正常。最突出的发现是，所有铁过载患者对胰高血糖素刺激的生长激素反应均明显受损。基础内分泌评估显示，两名年龄分别为16.8岁和12.9岁的患者患有原发性甲状腺功能减退，血浆甲状腺素浓度分别为86和59 nmol/l（正常范围65 - 165 nmol/l），血浆促甲状腺激素分别为10.2和30.3 mU/l（正常范围0.5 - 5 mU/l）。一名患者患有糖尿病。这些结果表明，即使寻求理想的治疗，仍会发生大量内分泌损伤；因此，对这些患者进行监测至关重要。
