Konagaya Y, Konagaya M, Mano Y, Takayanagi T, Tomita A
J Neurol Sci. 1985 Oct;70(3):339-46. doi: 10.1016/0022-510x(85)90175-3.
Endocrine abnormalities in myotonic dystrophy (MyD) reflect some of the multi-systemic involvement resulting from this disorder. One of these, abnormal insulin secretion, is considered to be caused by receptor dysfunction. Bone abnormalities, cataract and calcium transport defect suggest the abnormal calcium metabolism in MyD. The calcium metabolism is chiefly regulated by parathyroid hormone (PTH). An interest in the similarity between MyD and pseudohypoparathyroidism, which is a disorder of PTH receptor dysfunction, encouraged the authors to evaluate renal PTH receptor function from the responses of urinary adenosine 3',5'-monophosphate (cAMP) and phosphate excretion after administration of human PTH(1-34). The responses of cAMP were high in 3 cases, low in one case, but normal in the 4 other cases. The phosphaturic responses were elevated in 3 cases, reduced in 3 cases, and normal in 2 other cases. Since these abnormal responses closely mimic those in hypoparathyroidism, there may also be renal PTH receptor dysfunction in some cases of MyD. The results of the present study suggest another peptide hormone receptor defect, similar to insulin, which supports the hypothesis of generalised receptor dysfunction in MyD.
强直性肌营养不良（MyD）中的内分泌异常反映了该疾病所导致的一些多系统受累情况。其中之一，即胰岛素分泌异常，被认为是由受体功能障碍引起的。骨骼异常、白内障和钙转运缺陷提示MyD中存在钙代谢异常。钙代谢主要受甲状旁腺激素（PTH）调节。由于对MyD与假性甲状旁腺功能减退（一种PTH受体功能障碍疾病）之间的相似性感兴趣，作者们通过给予人PTH(1 - 34)后尿中3',5'-单磷酸腺苷（cAMP）和磷酸盐排泄的反应来评估肾脏PTH受体功能。cAMP反应在3例中较高，1例较低，另外4例正常。磷尿反应在3例中升高，3例中降低，另外2例正常。由于这些异常反应与甲状旁腺功能减退中的反应极为相似，所以在某些MyD病例中可能也存在肾脏PTH受体功能障碍。本研究结果提示存在另一种类似于胰岛素的肽类激素受体缺陷，这支持了MyD中存在全身性受体功能障碍的假说。
