Literature DB >> 2397176

Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.

J H Ehrich1, G Offner, E Schirg, P F Hoyer, U Helmchen, J Brodehl.   

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.

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Mesh：

Year:  1990        PMID： 2397176     DOI： 10.1007/bf00858821

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  12 in total

1.  [Not Available].

Authors:  P MAROTEAUX; M LAMY; J BERNARD
Journal:  Presse Med       Date:  1957-06-26       Impact factor: 1.228

2.  The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred.

Authors:  W M Bennett; J E Musgrave; R A Campbell; D Elliot; R Cox; R E Brooks; E W Lovrien; R K Beals; G A Porter
Journal:  Am J Med       Date:  1973-03       Impact factor: 4.965

3.  Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.

Authors:  R N Schimke; W A Horton; C R King; N L Martin
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  The hereditary nephritides.

Authors:  R N Schimke
Journal:  Birth Defects Orig Artic Ser       Date:  1970-09

Review 5.  Spondyloepiphyseal dysplasias.

Authors:  J Spranger
Journal:  Birth Defects Orig Artic Ser       Date:  1975

6.  Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.

Authors:  J M Opitz; R B Lowry; T M Holmes; K Morgan
Journal:  Am J Med Genet       Date:  1985-11

7.  Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

Authors:  B Lee; H Vissing; F Ramirez; D Rogers; D Rimoin
Journal:  Science       Date:  1989-05-26       Impact factor: 47.728

8.  Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye.

Authors:  T G Murray; W R Green; I H Maumenee; S E Kopits
Journal:  Arch Ophthalmol       Date:  1985-03

9.  Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.

Authors:  G Kohn; E R Elrayyes; I Makadmah; A Rösler; M Grünebaum
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

10.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307
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  10 in total

1.  Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.

Authors:  Sanjay Sarin; Ashkan Javidan; Felix Boivin; Iakovina Alexopoulou; Dusan Lukic; Bruno Svajger; Stephanie Chu; Alireza Baradaran-Heravi; Cornelius F Boerkoel; Norman D Rosenblum; Darren Bridgewater
Journal:  J Histochem Cytochem       Date:  2014-10-15       Impact factor: 2.479

2.  A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.

Authors:  Clinton Carroll; Tracy E Hunley; Yan Guo; David Cortez
Journal:  Am J Med Genet A       Date:  2015-05-05       Impact factor: 2.802

3.  Mitochondrial function in schimke-immunoosseous dysplasia.

Authors:  Thomas Lücke; Jochen H H Ehrich; Anibh M Das
Journal:  Metab Brain Dis       Date:  2005-09       Impact factor: 3.584

4.  Schimke immuno-osseous dysplasia: a clinicopathological correlation.

Authors:  J Marietta Clewing; Barbara C Antalfy; Thomas Lücke; Behzad Najafian; Katja M Marwedel; Akira Hori; Ralph M Powel; A F Safo Do; Lydia Najera; Karen SantaCruz; M John Hicks; Dawna L Armstrong; Corndins F Boerkoel
Journal:  J Med Genet       Date:  2006-07-13       Impact factor: 6.318

5.  Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

Authors:  Thomas Lücke; Katja M Marwedel; Nele K Kanzelmeyer; Akira Hori; Gisela Offner; Hans-Heinrich Kreipe; Jochen H H Ehrich; Anibh M Das
Journal:  Pediatr Nephrol       Date:  2004-03-31       Impact factor: 3.714

6.  A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis.

Authors:  E Pedagogos; G Flanagan; D M Francis; G J Becker; D M Danks; R G Walker
Journal:  Pediatr Nephrol       Date:  1995-06       Impact factor: 3.714

7.  Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings.

Authors:  G Lama; N Marrone; M Majorana; F Cirillo; M E Salsano; M M Rinaldi
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

8.  Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

Authors:  Jakub Zieg; Anna Krepelova; Alireza Baradaran-Heravi; Elena Levtchenko; Encarna Guillén-Navarro; Miroslava Balascakova; Martina Sukova; Tomas Seeman; Jiri Dusek; Nadezda Simankova; Tomas Rosik; Sylva Skalova; Jan Lebl; Cornelius F Boerkoel
Journal:  Pediatr Rheumatol Online J       Date:  2011-09-13       Impact factor: 3.054

9.  Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia.

Authors:  Thomas Lücke; Lars Pape
Journal:  NDT Plus       Date:  2008-01-04

10.  Schimke immunoosseous dysplasia: defining skeletal features.

Authors:  Kshamta B Hunter; Thomas Lücke; Jürgen Spranger; Sarah F Smithson; Harika Alpay; Jean-Luc André; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fründ; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel
Journal:  Eur J Pediatr       Date:  2009-12-15       Impact factor: 3.183
  10 in total

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