Pseudo-pseudo-hypoparathyroidism in a child.
Pseudo-pseudo-hypoparathyroidism in a child.
复制标题
儿童假性假性甲状旁腺功能减退症。
作者：
Esten W. Ray;L. I. Gardner
这是一个报告的最年轻的已知病人与假性假性甲状旁腺功能减退症和第一个孩子的综合征被描述在美国的文献。1952年，Albright等人首次报道了成人的这种综合征。采用前缀“假性-假性-”是因为在先前描述的假性甲状旁腺功能减退综合征中，下述临床结果加上惊厥与血清中无机磷浓度升高和钙浓度降低相关。
患者是一名白色女孩，年龄7岁半，智力发育迟缓和肥胖（41.3 kg）。无手足抽搐或惊厥病史。体格检查发现圆脸、斜视和手指下垂。手指甲和脚趾甲短而宽。在胸部、腹部和大腿上有圆形的蓝色区域。钙、镁、总蛋白、白蛋白和球蛋白浓度正常，碱性磷酸酶活性也正常。血清中无机磷的浓度范围为6.9至7.8 mg/100 ml。埃尔斯沃-霍华德试验是阴性的，但所用的甲状旁腺提取物可能不是有效的。手部的X光片显示异常短，弯曲的掌骨和短指骨，骨龄为13至14岁。足部软组织钙化。
缩略图的宽度与长度之比为2.8。从年龄相仿的儿童中获得的类似比率为1.1至1.4。建议在对不明原因惊厥患儿进行体格检查时，应将拇指甲宽/长比值纳入检查范围，以提高对假性甲状旁腺功能减退症患儿的识别率。
这位母亲的每只手的第五个手指都明显缩短了，第五个指关节的位置被一个酒窝取代。她的脸不是特别圆，她看起来智力一般。母亲双手的X光片显示右侧第四和第五掌骨以及左侧第四掌骨缩短，双手和手腕软组织广泛钙化。
假性甲状旁腺功能减退症和假性甲状旁腺功能减退症表现为“垂直”家族模式。这种遗传模式可以在由于基因处于杂合状态（即，所谓显性基因（dominant genes）。目前还没有证据表明这两种综合征代表性连锁遗传模式。
This is a report of the youngest known patient with pseudo-pseudo-hypoparathyroidism and the first child with the syndrome to be described in the American literature. In 1952 Albright et al. first reported this syndrome in an adult. The prefix "pseudo-pseudo-" was adopted because in a previously described syndrome, pseudo-hypoparathyroidism, the clinical findings described below plus convulsions had been associated with elevated concentrations of inorganic phosphorus and depressed concentrations of calcium in the serum.
The patient is a white girl, age 7½ years, with retarded intellectual development and obesity (41.3 kg). There was no history of tetany or convulsions. Physical examination revealed round face, strabismus and stubby fingers. The fingernails and toenails were short and very wide. There were circular bluish areas over the thorax, abdomen and thighs. Concentrations of calcium, magnesium, total protein, albumin and globulin were normal as was the alkaline phosphatase activity. Concentrations of inorganic phosphorus in the serum ranged from 6.9 to 7.8 mg/100 ml. An Ellsworth-Howard test was negative, but the parathyroid extract used may not have been potent. Roentgenograms of the hands revealed abnormally short, bowed metacarpals and short phalanges, with bone age of 13 to 14 years. There was calcification of soft tissues of the feet.
The ratio of width to length of the thumbnail was 2.8. Similar ratios obtained with children of similar age ranged from 1.1 to 1.4. It is suggested that the ratio of width to length of the thumbnail be included in the physical examination of children with convulsions of unknown etiology, in an effort to identify more patients with pseudo-hypoparathyroidism.
The mother had marked shortening of the fifth digit of each hand, with the site of the fifth knuckle replaced by a dimple. Her face was not especially round and she appeared to be of average intelligence. Roentgenogram of the mother's hands showed shortening of the right fourth and fifth metacarpals and the left fourth metacarpal, with extensive calcification of soft tissues in both hands and wrists.
Pseudo-pseudo-hypoparathyroidism and pseudo-hypoparathyroidism exhibit a "vertical" familial pattern. This genetic pattern may be seen in diseases due to genes in the heterozygous state (i.e., so-called dominant genes). There is as yet no evidence that the two syndromes represent sex-linked genetic patterns.