Rhone D P
Am J Clin Pathol. 1975 Oct;64(4):488-99. doi: 10.1093/ajcp/64.4.488.
The seventh case in the world literature of primary hyperparathyroidism in a neonate is reported. This is the fifth case in which an autopsy was performed. The clinical and anatomic findings in all seven cases are reviewed and compared. Neonates with primary hyperparathyroidism show diffuse hyperplasia of the parathyroid glands. The bones show disturbed osteogenesis, bone resorption, and widespread fibrosis of the marrow cavities. Bony cysts are not appreciated. Pathologic fractures are common. Marked hypercalciuria or hyperphosphaturia is usually not observed, perhaps because the immature renal tubules fail to respond to the influence of excess parathormone. Aminoaciduria and anemia are commonly observed. The prognosis is grave, and the etiology of this syndrome remains unexplained.
本文报告了世界文献中新生儿原发性甲状旁腺功能亢进症的第七例病例。这是第五例进行尸检的病例。对所有七例病例的临床和解剖学发现进行了回顾和比较。患有原发性甲状旁腺功能亢进症的新生儿表现为甲状旁腺弥漫性增生。骨骼显示成骨紊乱、骨质吸收以及骨髓腔广泛纤维化。未发现骨囊肿。病理性骨折很常见。通常未观察到明显的高钙尿症或高磷尿症，这可能是因为未成熟的肾小管无法对过量甲状旁腺激素的影响作出反应。常见氨基酸尿症和贫血。预后严重，该综合征的病因仍不明。
