Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
| Autor: | Voskarides, Konstantinos, Arsali, Maria, Athanasiou, Yiannis, Elia, Avraam, Pierides, Alkis M., Constantinou-Deltas, Constantinos D. |
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| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 2012 |
| Předmět: |
Male
Pathology genotype kidney disease arginine genetic risk urologic and male genital diseases Autoantigens hereditary hematuria Focal segmental glomerulosclerosis middle aged Podocin genetics membrane protein complement Renal Insufficiency Slit diaphragm restriction fragment length polymorphism familial disease Collagen IV education.field_of_study Proteinuria biology adult disease course article allele Intracellular Signaling Peptides and Proteins risk assessment pedigree Middle Aged autoantigen female genital diseases and pregnancy complications Pedigree aged female Phenotype priority journal risk factor Nephrology Modifier gene(s) glutamine disease severity Female Kidney Diseases medicine.symptom COL4A4 protein human Polymorphism Restriction Fragment Length CFHR5 Collagen Type IV medicine.medical_specialty Genotype phenotype Population Nephropathy nphs 2 gene male collagen type 4 medicine Humans signal peptide Genetic Predisposition to Disease human gene education Alleles Aged Hematuria TBMN urogenital system business.industry disease predisposition Membrane Proteins Complement System Proteins type IV collagen alpha3 chain medicine.disease major clinical study heterozygote kidney failure hematuria FSGS FHR5 protein human Pediatrics Perinatology and Child Health Immunology biology.protein pathology CFHR5 nephropathy prognosis COL4A3/COL4A4 proteinuria business genetic predisposition Kidney disease |
| Zdroj: | Pediatric Nephrology Pediatr.Nephrol. |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/s00467-011-2084-6 |
| Popis: | Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It is now known that TBMN patients develop proteinuria and changes of focal segmental glomerulosclerosis when biopsied. End-stage kidney disease (ESKD) is observed in 20% of carriers, at ages 50-70. A similar progression is observed in CFHR5 nephropathy. Recent evidence suggests that NPHS2-R229Q, a podocin polymorphism, may contribute to proteinuria in TBMN and to micro-albuminuria in the general population. Case-Diagnosis/Treatment NPHS2-R229Q was screened in a Cypriot FH cohort. 102 TBMN patients with three known COL4 mutations and 45 CFHR5 male patients with a single mutation were categorized as "Mild" or "Severe", based on the presence of microhematuria only, or proteinuria and chronic kidney disease. Nine R229Q carriers were found in the "Severe" category and none in the "Mild" (p00.010 for genotypic association p00.043 for allelic association, adjusted for patients' relatedness), thus supporting the possible contribution of 229Q allele in disease progress. Conclusions Our results offer more evidence that in patients with FH, NPHS2-R229Q predisposes to proteinuria and ESKD. R229Q may be a good prognostic marker for young hematuric patients © IPNA 2011. 27 675 679 Cited By :23 |
| Databáze: | OpenAIRE |
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