Schimke versus non-Schimke chronic kidney disease: An anthropometric approach

Pediatrics

Volumn 118, Issue 2, 2006, Pages

  Lücke, Thomas ^a   Franke, Doris ^a   Clewing, J Marietta ^b   Boerkoel, Cornelius F ^b   Ehrich, Jochen H H ^a   Das, Anibh M ^a   Živičnjak, Miroslav ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Anthropometry; Chronic kidney disease; Chronic renal failure; Schimke immuno osseous dysplasia

Indexed keywords

ADOLESCENT; ADULT; ANATOMICAL VARIATION; ANTHROPOMETRY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY GROWTH; BODY HEIGHT; BODY SIZE; CHILD; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; LEG LENGTH; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; PRIORITY JOURNAL; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; SITTING; SMARCAL 1 GENE; ARM; BONE DYSPLASIA; CEPHALOMETRY; CHROMOSOME DISORDER; CHRONIC KIDNEY FAILURE; COMPARATIVE STUDY; DISEASE COURSE; DWARFISM; FOCAL GLOMERULOSCLEROSIS; GENETICS; IMMUNE DEFICIENCY; KIDNEY TRANSPLANTATION; LEG; NEPHROTIC SYNDROME; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; SKINFOLD THICKNESS;

HELICASE; SMARCAL1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANTHROPOMETRY; ARM; BODY HEIGHT; BONE DISEASES, DEVELOPMENTAL; CEPHALOMETRY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; DISEASE PROGRESSION; DNA HELICASES; DWARFISM; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; LEG; MALE; NEPHROTIC SYNDROME; PHENOTYPE; SKINFOLD THICKNESS;

EID: 33748435082     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-2614     Document Type: Article

References (16)

1. Ehrich JHH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol. 1990;4:117-121
2. Ehrich JHH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, Brodehl J. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol. 1995;43:89-95
3. Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr. 1991;119:64-72
4. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Weksberg R. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr. 2000;159:1-7
5. Gilchrist DM, Harley FL. Schimke immuno-osseous dysplasia. J Pediatr. 1992;120:497
6. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet. 1994;49:266-269
7. Boerkoel CF, Takashima H, John J, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002;30;215-220
8. Lücke T, Billing H, Sloan EA, et al. Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. Am J Med Genet. 2005;135:202-205
9. Ludman MD, Cole DE, Crocker JF, Cohen MM Jr. Schimke immuno-osseous dysplasia: case report and review. Am J Med Genet. 1993;47:793-796
10. Saraiva JM, Dinis A, Resende C, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet. 1999;36:786-789
11. Rottenberg GT, Shaw DG, Hall CM. Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke Immunoosseous Dysplasia). J Pediatr Orthop B. 1997;6:7-10
12. Zivicnjak M, Franke D, Ehrich JH, Filler G. Does growth hormone therapy harmonize distorted morphology and body composition in chronic renal failure? Pediatr Nephrol. 15:229-235, 2000
13. Weiner JS, Lourie JA. Practical Human Biology. London, United Kingdom: Academic Press; 1981
14. Zivicnjak M, Narancic NS, Szirovicza L, Franke D, Hrenovic J, Bisof V. Gender-specific growth patterns for stature, sitting height and limbs length in Croatian children and youth (3 to 18 years of age). Coll Antropol. 2003;27;321-334
15. Zellner K, Keller E, Kromeyer K, Jaeger U. Acromegaloidal changes in Ullrich-Turner syndrome after treatment with growth hormone. Acta Med Auxol. 1997;29:125-133
16. Eiholzer U, Gisin R, Weinmann C, et al. Treatment with growth hormone in patients with Prader-Labhart-Will syndrome reduces body fat an increases muscle mass and physical performance. Eur J Pediatr. 1998;157:368-377