Ozgen A G, Ercan E, Ozütemiz O, Hamulu F, Bayraktar F, Yilmaz C
Department of Endocrinology, Ege University Faculty of Medicine, Bornova-Izmir, Turkey.
Endocr J. 1999 Feb;46(1):227-30. doi: 10.1507/endocrj.46.227.
4A syndrome is characterised by adrenocortical insufficiency, achalasia, alacrima, autonomic and other neurological abnormalities. We report an 18-year-old boy with 4 A syndrome and having all classical features of the disease including sensorimotor neuropathy. In addition, the patient had low aldosterone levels and signs of osteoporosis, which apparently developed without glucocorticoid replacement therapy. Although it is speculated that the lack of local growth factors, nutritional deficiency secondary to achalasia or receptor abnormalities regarding bone metabolism contribute to osteoporosis, its etiopathogenesis still needs to be clarified.
4A综合征的特征为肾上腺皮质功能不全、贲门失弛缓症、无泪症、自主神经及其他神经异常。我们报告一名18岁患有4A综合征的男孩，具有该疾病的所有典型特征，包括感觉运动性神经病变。此外，该患者醛固酮水平低且有骨质疏松迹象，显然在未进行糖皮质激素替代治疗的情况下就已出现。尽管推测局部生长因子缺乏、贲门失弛缓症继发的营养缺乏或骨代谢相关受体异常与骨质疏松有关，但其发病机制仍需阐明。
