Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.
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.
Lücke
Thomas
T
Department of Pediatrics, Hannover Medical School, Carl-Neuberg Strasse 1, D-30623 Hannover, Germany. luecke.thomas@mh-hannover.de
Franke
Doris
D
Clewing
J Marietta
JM
Boerkoel
Cornelius F
CF
Ehrich
Jochen H H
JH
Das
Anibh M
AM
Zivicnjak
Miroslav
M
D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001132:Arm / Q000473:pathology; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D004265:DNA Helicases; D018450:Disease Progression; D004392:Dwarfism / Q000235:genetics / Q000473:pathology*; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology*; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016030:Kidney Transplantation; D007866:Leg / Q000473:pathology*; D008297:Male; D009404:Nephrotic Syndrome / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D010641:Phenotype; D012885:Skinfold Thickness
C412482:SMARCAL1 protein, human; D004265:DNA Helicases