RENAL CYSTS IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

被引：23

作者：

STROM, EH ^{[1
]}

STROMME, P ^{[1
]}

WESTVIK, J ^{[1
]}

PEDERSEN, SJ ^{[1
]}

机构：

[1] ULLEVAL HOSP,DEPT PATHOL,OSLO 1,NORWAY

来源：

PEDIATRIC NEPHROLOGY | 1993年 / 7卷 / 03期

关键词：

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; RENAL CYSTS; AUTOSOMAL RECESSIVE; ULTRASOUND; AUTOPSY;

D O I：

10.1007/BF00853211

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The carbohydrate-deficient glycoprotein (CDG) syndrome is a newly described genetic disorder with autosomal recessive inheritance and multiple organ involvement. We describe five patients with the CDG syndrome who all had abnormal renal structure. In two patients autopsy disclosed multiple microcysts. A hyperechogenic pattern strongly suggesting microcysts was demonstrated in all patients that were available for ultrasound examination, while a large single cyst was also seen in one patient. Based on these findings and the reports of others, renal cysts appear to be common in the CDG syndrome.

引用

页码：253 / 255

页数：3

共 11 条

[1]

Jaeken J., Vanderschueren-Lodeweyck M., Casaer P., Snoeck L., Corbeel L., Eggermont E., Eeckels P., Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH, and GH levels, partial TBG deficiency, increased serum aryl-sulphatase A and increased CSF protein: a new syndrome?, Pediatr Res, 14, (1980)

[2]

Kristiansson B., Andersson M., Tonnby B., Hagberg B., Disialotransferrin developmental deficiency syndrome, Arch Dis Child, 64, pp. 71-76, (1989)

[3]

Jaeken J., Hagberg B., Stromme P., Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome, Acta Paediatr Scand, 375, pp. 6-13, (1991)

[4]

Stibler H., Jaeken J., Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome, Arch Dis Child, 65, pp. 107-111, (1990)

[5]

Nordborg C., Hagberg B., Kristiansson B., Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome, Acta Paediatr Scand, 375, pp. 39-49, (1991)

[6]

Stromme P., Maehlen J., Strom E.H., Torvik A., Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome, Acta Paediatr Scand, 375, pp. 55-62, (1991)

[7]

Harding B.N., Dunger D.B., Grant D.B., Erdohazi M., Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities, J Neurol Neurosurg Psychiatry, 51, pp. 385-389, (1988)

[8]

Horslen S.P., Clayton P.T., Harding B.N., Hall N.A., Keir G., Winchester B., Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome, Arch Dis Child, 66, pp. 1027-1032, (1991)

[9]

Hayden C.K., Santa-Cruz F.R., Amparo E.G., Brouhard B., Swischuk L.E., Ahrendt K.D., Ultrasonographic evaluation of the renal parenchyma in infancy and childhood, Radiology, 152, pp. 413-417, (1984)

[10]

Haller J.O., Berdon W.E., Friedman A.P., Increased renal cortical echogenicity: a normal finding in neonates and infants, Radiology, 142, pp. 173-174, (1982)

← 1 2 →