Abstract
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.
Similar content being viewed by others
References
Schimke RN (1970) The hereditary nephritides. Birth Defects 6:12–24
Bennet WM, Musgrave JE, Campbell RA, Elliot D, Cox R, Brooks RE, Lovrien EW, Beals RK, Porter GA (1973) The nephropathy of the nail-patella syndrome. Clinico-pathological analysis of 11 kindred. Am J Med 54:304–319
Scott CR, Lagunoff D, Pritzl P (1973) A mucopolysaccharide storage disease with involvement of the renal glomerular epithelium. Am J Med 54:549–556
Schimke RN, Horton WA, King CR, Martin NL (1974) Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects 10:258–266
Gruber W, Paschke E, Ring E, Sperl W, Stöcker S (1986) Infantile sialic acid storage disease (ISSD) in two sibs with severe nephrotic syndrome. Eur J Pediatr 146:102
Opitz JM, Lowry RB, Holmes TM, Morgan K (1985) Hutterite cerebroosteo-nephrodysplasia. Am J Med Genet 22:521–529
Daentl DL, Piel CF, Siegle RC, Townsend J, Wara DW, Gooding C, Bachmann R (1977) Fatal nephrosis, hydrocephalus, thin skin, blue scleras, growth retardation and biochemical studies. Birth Defects 13:229–264
Ehrich JHH, Offner G, Schirg E, Helmchen U, Brodehl J (1988) Minderwuchssyndrom mit Skelettdysplasien and fokal segmental sklerosierender Glomerulonephritis. Monatsschr Kinderheilkd 136:6
Spranger J, Langer LO (1974) Spondyloepiphyseal dysplasias. Birth Defects 11:177–182
Sillence DO, Horton WA, Rimoin DL (1979) Morphologic studies in the skeletal dysplasias. Am J Pathol 96:811–870
Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D (1989) Identification of the molecular defect in a family with spondylo-epiphyseal dysplasia. Science 244:978–980
Stoess H, Pesch HJ, Pontz B, Otten A, Spranger J (1982) Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia. Eur J Pediatr 138:120–129
Kohn G, Elrayyes E, Makadamah I, Rösler A, Grünebaum M (1987) Spondylo-epiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation. J Med Genet 24:366–377
Murray TG, Green WR, Maumenel IH, Kopits SE (1985) Spondoepiphyseal dysplasia congenita. Arch Ophthalmol 103:407–411
Maroteaux P, Lamy M, Bernard J (1957) La dysplasie spondyloepiphysaire tardive. Presse Med 65:1205–1208
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ehrich, J.H.H., Offner, G., Schirg, E. et al. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol 4, 117–121 (1990). https://doi.org/10.1007/BF00858821
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00858821