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威廉姆斯综合征患者肾髓质回声增强。

Increased renal medullary echogenicity in patients with Williams syndrome.

作者信息

Cote G, Jequier S, Kaplan P

机构信息

Department of Radiology, Montreal Children's Hospital, McGill University, Quebec, Canada.

出版信息

Pediatr Radiol. 1989;19(6-7):481-3. doi: 10.1007/BF02387666.

DOI:10.1007/BF02387666
PMID:2671904
Abstract

Williams syndrome is characterized by peripheral artery stenosis such as supravalvular aortic stenosis, a distinctive dysmorphic facies, mental retardation and occasionally by transient infantile hypercalcemia. Twenty-five children with this syndrome underwent abdominal ultrasound examinations in our institution between 1983-1988. Five showed an increase in the renal medullary echogenicity consistent with medullary nephrocalcinosis. The echogenicity did not change with time. Two of the five had documented hypercalcemia in infancy. The other three did not have calcium measurements in infancy. No patient with normal serum calcium measurements during infancy developed nephrocalcinosis. Renal ultrasound may add information as to the incidence of infantile hypercalcemia in Williams syndrome.

摘要

威廉姆斯综合征的特征是外周动脉狭窄,如瓣上主动脉狭窄、独特的畸形面容、智力迟钝,偶尔还会出现短暂的婴儿高钙血症。1983年至1988年期间,25名患有该综合征的儿童在我们机构接受了腹部超声检查。5名儿童显示肾髓质回声增强,符合髓质肾钙质沉着症。回声随时间没有变化。这5名儿童中有2名在婴儿期有高钙血症记录。另外3名儿童在婴儿期未进行钙测量。婴儿期血清钙测量正常的患者均未发生肾钙质沉着症。肾脏超声检查可能会提供有关威廉姆斯综合征婴儿高钙血症发病率的信息。

相似文献

1
Increased renal medullary echogenicity in patients with Williams syndrome.威廉姆斯综合征患者肾髓质回声增强。
Pediatr Radiol. 1989;19(6-7):481-3. doi: 10.1007/BF02387666.
2
The elfin facies syndrome.小精灵面容综合征
Oral Surg Oral Med Oral Pathol. 1975 Aug;40(2):205-18. doi: 10.1016/0030-4220(75)90153-x.
3
Williams syndrome and renal failure.
Lancet. 1988 Oct 1;2(8614):804. doi: 10.1016/s0140-6736(88)92464-6.
4
The Williams elfin facies syndrome. A new perspective.威廉姆斯小精灵面容综合征。一种新视角。
J Pediatr. 1975 May;86(5):718-23. doi: 10.1016/s0022-3476(75)80356-8.
5
Strabismus in Williams syndrome.威廉姆斯综合征中的斜视
Am J Ophthalmol. 1995 Mar;119(3):355-60. doi: 10.1016/s0002-9394(14)71180-8.
6
Contractures in patients with Williams syndrome.
Pediatrics. 1989 Nov;84(5):895-9.
7
Hyperacusis and otitis media in individuals with Williams syndrome.
J Speech Hear Disord. 1990 May;55(2):339-44. doi: 10.1044/jshd.5502.339.
8
[Post-valvular pulmonary and aortic stenoses with unusual facies and mental retardation].[瓣膜后置型肺动脉和主动脉狭窄伴特殊面容及智力发育迟缓]
Acta Cardiol. 1966;21(6):611-43.
9
Cognitive processing of children with Williams syndrome.威廉姆斯综合征患儿的认知加工
Dev Med Child Neurol. 1988 Oct;30(5):650-6. doi: 10.1111/j.1469-8749.1988.tb04804.x.
10
Systemic hypertension secondary to peripheral vascular anomalies in patients with Williams syndrome.
J Pediatr. 1985 Feb;106(2):249-51. doi: 10.1016/s0022-3476(85)80297-3.

引用本文的文献

1
Causes of increased renal medullary echogenicity in Turkish children.土耳其儿童肾髓质回声增强的原因。
Pediatr Nephrol. 1995 Dec;9(6):729-33. doi: 10.1007/BF00868724.

本文引用的文献

1
ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA.主动脉瓣狭窄与重度婴儿高钙血症面容之间的关联。
Lancet. 1963 Oct 12;2(7311):745-9. doi: 10.1016/s0140-6736(63)90553-1.
2
Metabolic studies in a patient with idiopathic hypercalcemia of infancy.一名婴儿特发性高钙血症患者的代谢研究。
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Supravalvular aortic stenosis.瓣上主动脉狭窄
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[Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations].[慢性高血糖,合并骨硬化、氮质血症、侏儒症和先天性畸形]
Helv Paediatr Acta. 1952 Aug;7(4):314-49.
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Pathogenesis of the supravalvular aortic stenosis syndrome.主动脉瓣上狭窄综合征的发病机制。
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Peripheral vascular anomalies associated with the supravalvular aortic stenosis syndrome.
Radiology. 1966 Mar;86(3):430-5. doi: 10.1148/86.3.430.
7
Imparied calcitonin secretion in patients with Williams syndrome.威廉姆斯综合征患者降钙素分泌受损。
J Pediatr. 1985 Nov;107(5):720-3. doi: 10.1016/s0022-3476(85)80399-1.
8
The Williams elfin facies syndrome. A new perspective.威廉姆斯小精灵面容综合征。一种新视角。
J Pediatr. 1975 May;86(5):718-23. doi: 10.1016/s0022-3476(75)80356-8.
9
Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium.瓣上主动脉狭窄-婴儿高钙血症综合征:对维生素D2和钙的体外超敏反应。
J Med Genet. 1976 Jun;13(3):223-8. doi: 10.1136/jmg.13.3.223.
10
Supravalvular aortic stenosis with parafollicular cell (C-cell) hyperplasia.瓣上主动脉狭窄伴滤泡旁细胞(C细胞)增生。
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