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01.11.2014 | Original Article

Muscle involvement in Dent disease 2

verfasst von: Eujin Park, Hyun Jin Choi, Jiwon M. Lee, Yo Han Ahn, Hee Gyung Kang, Yoo Mee Choi, Se Jin Park, Hee Yeon Cho, Yong-Hoon Park, Seung Joo Lee, Il Soo Ha, Hae Il Cheong

Erschienen in: Pediatric Nephrology | Ausgabe 11/2014

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

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Titel: Muscle involvement in Dent disease 2
verfasst von: Eujin Park
Hyun Jin Choi
Jiwon M. Lee
Yo Han Ahn
Hee Gyung Kang
Yoo Mee Choi
Se Jin Park
Hee Yeon Cho
Yong-Hoon Park
Seung Joo Lee
Il Soo Ha
Hae Il Cheong
Publikationsdatum: 01.11.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 11/2014
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-014-2841-4

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Muscle involvement in Dent disease 2