Boscherini B, Coen G, Bianchini G, Gallucci G, Ballanti P, Pasquino A M, Piccolo F, Manca Bitti M L, Spadoni G L
Acta Paediatr Scand. 1980 May;69(3):305-9. doi: 10.1111/j.1651-2227.1980.tb07083.x.
The authors observed different clinical forms of Albright's hereditary osteodystrophy in 4 members of a family (two sisters, their mother and the maternal grandfather). The sisters were affected by pseudohypoparathyroidism type I, the older manifested the hypocalcemic variety, the younger the normocalcemic variety; the mother and the grandfather presented only with short stature and subcutaneous calcifications. The variety of clinical and biochemical alterations observed in these 3 generations supports evidence that Albright's hereditary osteodystrophy has a broad spectrum and that distinctions between the various forms of pseudohypoparathyroidsim should not be rigidly considered.
作者在一个家族的4名成员(两姐妹、她们的母亲和外祖父)中观察到了不同临床形式的奥尔布赖特遗传性骨营养不良。两姐妹患有I型假性甲状旁腺功能减退症,姐姐表现为低钙血症型,妹妹表现为血钙正常型;母亲和外祖父仅表现为身材矮小和皮下钙化。在这三代人中观察到的各种临床和生化改变支持了以下证据,即奥尔布赖特遗传性骨营养不良具有广泛的谱系,并且不应严格区分各种形式的假性甲状旁腺功能减退症。