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肯尼综合征,一种罕见的生长发育缺陷疾病,伴有肾小管狭窄、短暂性甲状旁腺功能减退和屈光异常。

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

作者信息

Majewski F, Rosendahl W, Ranke M, Nolte K

出版信息

Eur J Pediatr. 1981 Mar;136(1):21-30. doi: 10.1007/BF00441706.

Abstract

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

摘要

报道了一个患有肯尼综合征的家族(3例)和另一个具有肯尼综合征特征但无髓管狭窄的家族(3例)。两个家族的主要症状均为匀称性侏儒症、管状骨皮质增厚、颅骨各种异常、贫血、短暂性甲状旁腺功能减退及各种眼部异常。后者包括小眼症以及中度至重度近视或远视。在第一个家族中,大多数管状骨存在髓管狭窄。在第二个家族中,2例表现为管状骨轻度至中度皮质增厚,但无髓管狭窄或髓管狭窄较轻。讨论了肯尼综合征可能存在的变异性。内分泌研究未能证实甲状旁腺激素或降钙素代谢有任何永久性紊乱,也未发现生长激素缺乏。发病机制仍不清楚。常染色体显性遗传似乎很有可能。

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