Muscle involvement in Dent disease 2.

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.

• Authors: 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
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 29 Issue 11 Pg. 2127-32 (Nov 2014) ISSN: 1432-198X [Electronic] Germany
• PMID: 24912603 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Biomarkers
• CLC-5 chloride channel
• Chloride Channels
• L-Lactate Dehydrogenase
• Aspartate Aminotransferases
• Creatine Kinase
• Phosphoric Monoester Hydrolases
• OCRL protein, human

Topics

• Adolescent
• Aspartate Aminotransferases (metabolism)
• Biomarkers
• Child
• Chloride Channels (genetics, metabolism)
• Creatine Kinase (metabolism)
• Female
• Genetic Diseases, X-Linked (enzymology, genetics, pathology)
• Genotype
• Humans
• L-Lactate Dehydrogenase (metabolism)
• Liver (enzymology)
• Male
• Muscle, Skeletal (enzymology, pathology)
• Nephrolithiasis (enzymology, genetics, pathology)
• Oculocerebrorenal Syndrome (enzymology)
• Phosphoric Monoester Hydrolases (genetics, metabolism)