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Muscle involvement in Dent disease 2

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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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Acknowledgments

This study was supported by a grant (A120017) of the Korea Healthcare technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea

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Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea

    Eujin Park, Hyun Jin Choi, Jiwon M. Lee, Yo Han Ahn, Hee Gyung Kang, Il Soo Ha & Hae Il Cheong

  2. Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

    Hee Gyung Kang & Hae Il Cheong

  3. Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea

    Yoo Mee Choi

  4. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea

    Se Jin Park

  5. Department of Pediatrics, Samsung Medical Center, Seoul, Korea

    Hee Yeon Cho

  6. Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea

    Yong-Hoon Park

  7. Department of Pediatrics, Ehwa University Mokdong Hospital, Seoul, Korea

    Seung Joo Lee

  8. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea

    Il Soo Ha & Hae Il Cheong

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  1. Eujin Park
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  9. Yong-Hoon Park
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  11. Il Soo Ha
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  12. Hae Il Cheong
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Corresponding author

Correspondence to Hae Il Cheong.

Additional information

Eujin Park and Hyun Jin Choi contributed equally to this work.

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Park, E., Choi, H.J., Lee, J.M. et al. Muscle involvement in Dent disease 2. Pediatr Nephrol 29, 2127–2132 (2014). https://doi.org/10.1007/s00467-014-2841-4

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  • DOI: https://doi.org/10.1007/s00467-014-2841-4

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