ASSOCIATION OF SPONDYLOEPIPHYSEAL DYSPLASIA WITH NEPHROTIC SYNDROME

被引：40

作者：

EHRICH, JHH

OFFNER, G

SCHIRG, E

HOYER, PF

HELMCHEN, U

BRODEHL, J

机构：

[1] Kinderklinik, Medizinische Hochschule, Hannover

[2] Institute of Pathology, University of Hamburg, Hamburg

来源：

PEDIATRIC NEPHROLOGY | 1990年 / 4卷 / 02期

关键词：

Focal sclerosis; Growth failure; Nephrosis; Renal failure; Spondylo-epiphyseal dysplasia;

D O I：

10.1007/BF00858821

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The association of a spondylo-epiphyseal dysplasia and growth failure with the nephrotic syndrome was found in three boys. Renal biopsy performed on two revealed focal and segmental glomerulosclerosis. The nephrotic syndrome occurred at the age of 3-7 years, leading to end-stage renal failure in all patients. Growth failure persisted after successful renal transplantation. This association may represent a distinct disease entity. © 1990 IPNA.

引用

页码：117 / 121

页数：5

共 15 条

[1]

Schimke R.N., The hereditary nephritides, Birth Defects, 6, pp. 12-24, (1970)

[2]

Bennet W.M., Musgrave J.E., Campbell R.A., Elliot D., Cox R., Brooks R.E., Lovrien E.W., Beals R.K., Porter G.A., The nephropathy of the nail-patella syndrome. Clinico-pathological analysis of 11 kindred, The American Journal of Medicine, 54, pp. 304-319, (1973)

[3]

Scott C.R., Lagunoff D., Pritzl P., A mucopolysaccharide storage disease with involvement of the renal glomerular epithelium, Am J Med, 54, pp. 549-556, (1973)

[4]

Schimke R.N., Horton W.A., King C.R., Martin N.L., Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome, Birth Defects, 10, pp. 258-266, (1974)

[5]

Gruber W., Paschke E., Ring E., Sperl W., Stocker S., Infantile sialic acid storage disease (ISSD) in two sibs with severe nephrotic syndrome, Eur J Pediatr, 146, (1986)

[6]

Opitz J.M., Lowry R.B., Holmes T.M., Morgan K., Hutterite cerebroosteo-nephrodysplasia, Am J Med Genet, 22, pp. 521-529, (1985)

[7]

Daentl D.L., Piel C.F., Siegle R.C., Townsend J., Wara D.W., Gooding C., Bachmann R., Fatal nephrosis, hydrocephalus, thin skin, blue scleras, growth retardation and biochemical studies, Birth Defects, 13, pp. 229-264, (1977)

[8]

Ehrich J.H.H., Offner G., Schirg E., Helmchen U., Brodehl J., Minderwuchssyndrom mit Skelettdysplasien and fokal segmental sklerosierender Glomerulonephritis, Monatsschr Kinderheilkd, 136, (1988)

[9]

Spranger J., Langer L.O., Spondyloepiphyseal dysplasias, Birth Defects, 11, pp. 177-182, (1974)

[10]

Sillence D.O., Horton W.A., Rimoin D.L., Morphologic studies in the skeletal dysplasias, Am J Pathol, 96, pp. 811-870, (1979)

← 1 2 →