Published online June 30, 2006
PEDIATRICS Vol. 118 No. 2 August 2006, pp. e400-e407 (doi:10.1542/peds.2005-2614)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Lücke, T.
Right arrow Articles by Zivicnjak, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Lücke, T.
Right arrow Articles by Zivicnjak, M.
Related Collections
Right arrow Genitourinary Tract

ARTICLE

Schimke Versus Non-Schimke Chronic Kidney Disease: An Anthropometric Approach

Thomas Lücke, MDa, Doris Franke, MDa, J. Marietta Clewing, MDb, Cornelius F. Boerkoel, MD, PhDb, Jochen H.H. Ehrich, MD, PhDa, Anibh M. Das, MD, PhDa and Miroslav Zivicnjak, PhDa

a Department of Pediatrics, Hannover Medical School, Hannover, Germany
b Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

Schimke-immuno-osseous dysplasia is a rare autosomal-recessive multisystem disorder with the main clinical features of disproportionate growth deficiency, defective cellular immunity, and progressive renal disease. It is caused by mutations of SMARCAL1, a gene encoding a putative chromatin remodeling protein of unknown function. Because a detailed description of the clinical features is an essential first step in elucidating the function of SMARCAL1, we present the first detailed anthropometric data for Schimke-immuno-osseous dysplasia patients. By comprehensive anthropometric examination (28 parameters) of 8 patients (3 females) with the typical findings of Schimke-immuno-osseous dysplasia (mean age: 14.8 years; range: 4.9–30.5 years) and 304 patients (117 females) with congenital and hereditary chronic kidney disease (mean age: 10.7 ± 4.8 years; range: 3–21.8 years), we show that Schimke-immuno-osseous dysplasia patients differ significantly from those with other forms of chronic kidney disease. z scores were calculated with reference limits derived from 5155 healthy children (2591 females) aged 3 to 18 years. The key finding was that, in the latter group, median leg length was significantly more reduced than sitting height, whereas in Schimke-immuno-osseous dysplasia patients, the reduction of sitting height was significantly more pronounced than for leg length. Therefore, the ratio of sitting height/leg length might be a simple tool for the clinician to distinguish Schimke-immuno-osseous dysplasia from other chronic kidney disease patients. Schimke-immuno-osseous dysplasia is very likely if this ratio is <0.83. However, other forms of chronic kidney disease have to be discussed in case of a ratio >1.01.

Key Words: anthropometry • Schimke-immuno-osseous dysplasia • chronic renal failure • chronic kidney disease

Abbreviations: SIOD—Schimke-immuno-osseous dysplasia • CKD—chronic kidney disease • SDS—standard deviation score

Accepted Feb 6, 2006.




This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
T. Lucke, N. Kanzelmeyer, K. Chobanyan, D. Tsikas, D. Franke, M. J. Kemper, J. H.H. Ehrich, and A. M. Das
Elevated asymmetric dimethylarginine (ADMA) and inverse correlation between circulating ADMA and glomerular filtration rate in children with sporadic focal segmental glomerulosclerosis (FSGS)
Nephrol. Dial. Transplant., February 1, 2008; 23(2): 734 - 740.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J Marietta Clewing, B. C Antalfy, T. Lucke, B. Najafian, K. M Marwedel, A. Hori, R. M Powel, A F Safo Do, L. Najera, K. SantaCruz, et al.
Schimke immuno-osseous dysplasia: a clinicopathological correlation
J. Med. Genet., February 1, 2007; 44(2): 122 - 130.
[Abstract] [Full Text] [PDF]