Pohl, Michael, Danz, Karin, Gross, Oliver, John, Ulrike, Urban, Johannes, Patzer, Ludwig, Habbig, Sandra, Feldkoetter, Markus, Witzke, Oliver, Walther, Mario and Rhode, Heidrun (2013). Diagnosis of Alport syndrome-search for proteomic biomarkers in body fluids. Pediatr. Nephrol., 28 (11). S. 2117 - 2124. NEW YORK: SPRINGER. ISSN 0931-041X

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Abstract

The hereditary kidney disease Alport syndrome (AS) has become a treatable disease: intervention with angiotensin-converting enzyme (ACE)-inhibitors delays end stage renal failure by years. The efficiency of ACE inhibition depends on the onset of therapy-the earlier the better. Therefore, early diagnosis has become increasingly important. To date, robust diagnosis requires renal biopsy and/or expensive genetic analysis, which is mostly performed late after onset of the profound clinical symptoms of this progressive renal disease. Thus, disease biomarkers enabling low-invasive screening are urgently required. Fourteen potential proteomic candidate markers (proteins) identified in a previous study in sera from patients exhibiting manifest AS were evaluated in the plasma, serum, and urine collected from a cohort of 132 subjects, including patients with AS and other nephropathies and healthy controls. Quantitation was performed by immunoassays. The serum and plasma levels of none of the 14 proteins evaluated were significantly different among the three groups and therefore could not be used to discriminate between the groups. In contrast, the levels of various biomarker combinations in the urine were significantly different between AS patients and healthy controls. Importantly, some combinations had the potential to discriminate between AS and other nephropathies. These findings open a window of opportunity for the sensitive and specific early diagnosis of AS. Our results increase the potential for larger scale evaluation of an increased number of patients.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Pohl, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Danz, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Urban, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patzer, LudwigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Habbig, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feldkoetter, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witzke, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walther, MarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhode, HeidrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-473203
DOI: 10.1007/s00467-013-2533-5
Journal or Publication Title: Pediatr. Nephrol.
Volume: 28
Number: 11
Page Range: S. 2117 - 2124
Date: 2013
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 0931-041X
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GLOMERULAR-BASEMENT-MEMBRANE; DELAYS RENAL-FAILURE; FAMILIAL HEMATURIA; URINARY-EXCRETION; NATURAL-HISTORY; DISEASES; GENE; NEPHROPATHY; DISORDERS; ANTIGENSMultiple languages
Pediatrics; Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47320

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