Muscle involvement in Dent disease 2

Title
Muscle involvement in Dent disease 2
Author(s)
박은진[박은진]최현진[최현진]이지원[이지원]안요한[안요한]강희경[강희경]최유미[최유미]박세진[박세진]조희연[조희연]박용훈이승주[이승주]하일수[하일수]정해일[정해일]
Keywords
LOWE-SYNDROME; OCULOCEREBRORENAL SYNDROME; OCRL1 MUTATIONS; CLC PROTEINS; PHENOTYPE; CATARACTS
Issue Date
201411
Publisher
SPRINGER
Citation
PEDIATRIC NEPHROLOGY, v.29, no.11, pp.2127 - 2132
Abstract
Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only without genetic tests. Several studies have shown differences in serum levels of muscle enzymes between these diseases. The aim of our study was to test the validity of these findings. In total, 23 patients with Dent disease 1 (Group A), five patients with Dent disease 2 (Group B) and 19 patients with Lowe syndrome (Group C) were enrolled in our study. The serum levels of three muscle enzymes [creatine phosphokinase (CPK), lactate dehydrogenase (LDH), aspartate aminotransferase (AST)], were measured. The levels of a hepatic enzyme, alanine aminotransferase (ALT), were also measured as a control. One patient in Group B had muscle hypoplasia of both upper extremities. The serum levels of all three muscle enzymes assayed were higher in Group B or C patients than in Group A patients. Serum ALT levels were normal in all three groups of patients. The serum levels of muscle enzymes in patients with Dent disease can be used as a biomarker to predict genotypes, even though the patients do not have clinical symptoms of muscle involvement.
URI
http://hdl.handle.net/YU.REPOSITORY/30441http://dx.doi.org/10.1007/s00467-014-2841-4
ISSN
0931-041X
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의과대학 > 소아청소년과학교실 > Articles
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