22 results on '"Elia, Avraam"'
Search Results
2. Diversity of kidney care referral pathways in national child health systems of 48 European countries
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Tasic, Velibor, primary, Edvardsson, Vidar O., additional, Preka, Evgenia, additional, Prikhodina, Larisa, additional, Stefanidis, Constantinos J., additional, Topaloglu, Rezan, additional, Shtiza, Diamant, additional, Sarkissian, Ashot, additional, Mueller-Sacherer, Thomas, additional, Fataliyeva, Rena, additional, Kazyra, Ina, additional, Levtchenko, Elena, additional, Pokrajac, Danka, additional, Roussinov, Dimitar, additional, Milošević, Danko, additional, Elia, Avraam, additional, Seeman, Tomas, additional, Faerch, Mia, additional, Vainumae, Inga, additional, Kataja, Janne, additional, Tsimaratos, Michel, additional, Rtskhiladze, Irakli, additional, Hoyer, Peter F., additional, Reusz, George, additional, Awan, Atif, additional, Lotan, Danny, additional, Peruzzi, Licia, additional, Nigmatullina, Nazim, additional, Beishebaeva, Nasira, additional, Jeruma, Edite, additional, Jankauskiene, Augustina, additional, Niel, Olivier, additional, Said-Conti, Valerie, additional, Ciuntu, Angela, additional, Pavićević, Snežana, additional, Oosterveld, Michiel, additional, Bjerre, Anna, additional, Tkaczyk, Marcin, additional, Teixeira, Ana, additional, Lungu, Adrian C., additional, Tsygin, Alexey, additional, Stojanović, Vesna, additional, Podracka, Ludmila, additional, Kersnik Levart, Tanja, additional, Espino-Hernández, Mar, additional, Brandström, Per, additional, Sparta, Giuseppina, additional, Alpay, Harika, additional, Ivanov, Dmytro, additional, Dudley, Jan, additional, Khamzaev, Komiljon, additional, Haffner, Dieter, additional, and Ehrich, Jochen, additional
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- 2024
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3. Epidemiology and Risk Factors for Resistance to Treatment of Kawasaki Disease in Cyprus.
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Koliou, Maria G, primary, Aristidou, Athina, additional, Mazeri, Stella, additional, Georgiou, Elena, additional, Agathocleous, Maria, additional, Kousparou, Marianna, additional, Elia, Avraam, additional, and Jossif, Antonis, additional
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- 2021
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4. Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
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Voskarides, Konstantinos, Arsali, Maria, Athanasiou, Yiannis, Elia, Avraam, Pierides, Alkis, and Deltas, Constantinos
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- 2012
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5. NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
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Voskarides, Konstantinos, Makariou, Christiana, Papagregoriou, Gregory, Stergiou, Nicolaos, Printza, Nicoletta, Alexopoulos, Efstathios, Elia, Avraam, Papachristou, Fotis, Pierides, Alkis, Georgaki, Eleni, and Deltas, Constantinos
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- 2008
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6. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
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Pierides, Alkis, Voskarides, Konstantinos, Athanasiou, Yiannis, Ioannou, Kyriacos, Damianou, Loukas, Arsali, Maria, Zavros, Michalis, Pierides, Michael, Vargemezis, Vasilios, Patsias, Charalambos, Zouvani, Ioanna, Elia, Avraam, Kyriacou, Kyriacos, and Deltas, Constantinos
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- 2009
7. Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
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Athanasiou, Yiannis, Voskarides, Konstantinos, Chatzikyriakidou, Anthoula L., Ignatiou, Anastasia, Demosthenous, Panayiota, Elia, Avraam, Zavros, Michalis, Georgiou, Ioannis A., Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
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Male ,polymerase chain reaction ,very elderly ,DNA Mutational Analysis ,SLC3A1 gene ,Polymerase Chain Reaction ,DNA Resequencing ,amino acid transporter ,law.invention ,Polymorphism (computer science) ,law ,middle aged ,genetics ,gene mutation ,cystinuria ,Child ,restriction fragment length polymorphism ,Genetics (clinical) ,Polymerase chain reaction ,Aged, 80 and over ,Genetics ,child ,clinical article ,education.field_of_study ,Greece ,adult ,pedigree ,General Medicine ,Cystinuria ,chronic kidney failure ,Middle Aged ,Pedigree ,aged ,female ,founder effect ,Mutation (genetic algorithm) ,Female ,amino acid ,Adult ,Adolescent ,Population ,DNA sequence ,SLC7A9 gene ,Greek (people) ,gene frequency ,Article ,consanguinity ,male ,medicine ,heterozygosity ,Humans ,human ,gene ,SLC7A9 protein, human ,education ,end stage renal disease ,Aged ,business.industry ,SLC3A1 protein, human ,Single-strand conformation polymorphism ,school child ,medicine.disease ,Amino Acid Transport Systems, Neutral ,adolescent ,Mutation ,Amino Acid Transport Systems, Basic ,Kidney Failure, Chronic ,mutation ,business ,dna mutational analysis ,Founder effect - Abstract
Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. Methods: Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital patients' records and analytical follow-up of the families. Results and Discussion: We found a total of five mutations in 28 Greek-Cypriot cystinuric patients belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot patients is the SLC3A1-p.T216M, which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 patients are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other patients were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our patients. Only ∼14% of them developed chronic renal failure, and only one reached end-stage renal disease (ESRD). Conclusion: Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients having such a limited number of causative mutations will simplify diagnostics for this population. © Copyright 2015, Mary Ann Liebert, Inc. 19 641 645
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- 2015
8. COL4A5 and LAMA5 variants co-inherited in familial hematuria: Digenic inheritance or genetic modifier effect?
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Voskarides, Konstantinos, Papagregoriou, Gregory, Hadjipanagi, Despina, Petrou, Ioanelli, Savva, Isavella, Elia, Avraam, Athanasiou, Yiannis, Pastelli, Androulla, Kkolou, Maria, Hadjigavriel, Michalis, Stavrou, Christoforos, Pierides, Alkis, Deltas, Constantinos, and Deltas, Constantinos [0000-0001-5549-9169]
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0301 basic medicine ,Male ,Pathology ,030232 urology & nephrology ,Renal cysts ,lcsh:RC870-923 ,urologic and male genital diseases ,Glomerulonephritis, Membranous ,0302 clinical medicine ,Focal segmental glomerulosclerosis ,Medicine ,Exome sequencing ,Metalloproteinase ,Collagen IV ,Glomerular basement membrane ,Middle Aged ,Kidney disease ,female genital diseases and pregnancy complications ,Pedigree ,medicine.anatomical_structure ,Nephrology ,Laminin alpha 5 ,Female ,medicine.symptom ,Research Article ,Adult ,Collagen Type IV ,medicine.medical_specialty ,Kidney cysts ,Nephropathy ,03 medical and health sciences ,Internal medicine ,Exome Sequencing ,Humans ,Digenic inheritance ,Genetic Testing ,Alport syndrome ,Hematuria ,Modifier gene ,business.industry ,Genetic Variation ,Familial hematuria ,medicine.disease ,lcsh:Diseases of the genitourinary system. Urology ,FSGS ,030104 developmental biology ,Thin Basement Membrane Nephropathy (TBMN) ,Synaptopodin ,Laminin ,business - Abstract
Background: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). Methods: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations. Hierarchical filtering of the WES data was performed, followed by mutation prediction analysis, Sanger sequencing and genetic segregation analysis. Results: In one family with four patients, we found evidence for the contribution of two co-inherited variants in two crucial genes expressed in the glomerular basement membrane (GBM); LAMA5-p.Pro1243Leu and COL4A5-p.Asp654Tyr. Mutations in COL4A5 cause classical X-linked Alport Syndrome, while rare mutations in the LAMA5 have been reported in patients with focal segmental glomerulosclerosis. The phenotypic spectrum of the patients includes hematuria, proteinuria, focal segmental glomerulosclerosis, loss of kidney function and renal cortical cysts. Conclusions: A modifier role of LAMA5 on the background of a hypomorphic Alport syndrome causing mutation is a possible explanation of our findings. Digenic inheritance is another scenario, following the concept that mutations at both loci more accurately explain the spectrum of symptoms, but further investigation is needed under this concept. This is the third report linking a LAMA5 variant with human renal disease and expanding the spectrum of genes involved in glomerular pathologies accompanied by familial hematurias. The cystic phenotype overlaps with that of a mouse model, which carried a Lama5 hypomorphic mutation that caused severely reduced Lama5 protein levels and produced kidney cysts. 2018 The Author(s). The work was supported from the Cyprus Research Promotion Foundation through the grant NEW INFRASTRUCTURE/STRATEGIC/0308/24 to CD (co-funded by the European Regional Development Fund and the Republic of Cyprus). The funding body did not contribute to the design of study, collection, analysis and interpretation of data, or in manuscript writing. Scopus
- Published
- 2018
9. COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
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Voskarides, Konstantinos, primary, Papagregoriou, Gregory, additional, Hadjipanagi, Despina, additional, Petrou, Ioanelli, additional, Savva, Isavella, additional, Elia, Avraam, additional, Athanasiou, Yiannis, additional, Pastelli, Androulla, additional, Kkolou, Maria, additional, Hadjigavriel, Michalis, additional, Stavrou, Christoforos, additional, Pierides, Alkis, additional, and Deltas, Constantinos, additional
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- 2018
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10. New phenotypic aspects of the decidual spiral artery wall during early post-implantation mouse pregnancy
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Elia, Avraam, Charalambous, F., Georgiades, Pantelis, and Georgiades, Pantelis [0000-0002-5538-3163]
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Placenta ,Spiral artery ,Muscle Proteins ,Biochemistry ,Muscle, Smooth, Vascular ,Decidua basalis ,Mice ,Pregnancy ,pericyte ,Myosin ,implantation ,Mice, Inbred ICR ,biology ,Microfilament Proteins ,article ,Arteries ,Cell biology ,female ,medicine.anatomical_structure ,priority journal ,Female ,pregnancy ,Pericyte ,medicine.symptom ,decidua ,Muscle Contraction ,Muscle contraction ,transgelin ,medicine.medical_specialty ,phenotype ,calponin ,animal experiment ,Calponin ,nidation ,Biophysics ,Mural cell ,animal tissue ,myosin heavy chain ,Smooth muscle ,gestation period ,Mouse pregnancy ,Internal medicine ,Decidua ,medicine ,Animals ,protein expression ,Molecular Biology ,mouse ,artery wall ,Actin ,nonhuman ,Cell growth ,Calcium-Binding Proteins ,Mural cells ,Cell Biology ,Actins ,cell proliferation ,Endocrinology ,biology.protein ,alpha smooth muscle actin ,cell structure - Abstract
During pregnancy the walls of decidual spiral arteries (SAs) undergo clinically important structural modifications crucial for embryo survival/growth and maternal health. However, the mechanisms of SA remodeling (SAR) are poorly understood. Although an important prerequisite to this understanding is knowledge about the phenotype of SA muscular wall prior to and during the beginning of mouse SAR, this remains largely unexplored and was the main aim of this work. Using histological and immunohistochemical techniques, this study shows for the first time that during early mouse gestation, from embryonic day 7.5 (E7.5) to E10.5, the decidual SA muscular coat is not a homogeneous structure, but consists of two concentric layers. The first is a largely one cell-thick sub-endothelial layer of contractile mural cells (positive for α-smooth muscle actin, calponin and SM22α) with pericyte characteristics (NG2 positive). The second layer is thicker, and evidence is presented that it may be of the synthetic/proliferative smooth muscle phenotype, based on absence (α-smooth muscle actin and calponin) or weak (SM22α) expression of contractile mural cell markers, and presence of synthetic smooth muscle characteristics (expression of non-muscle Myosin heavy chain-IIA and of the cell proliferation marker PCNA). Importantly, immunohistochemistry and morphometrics showed that the contractile mural cell layer although prominent at E7.5-E8.5, becomes drastically reduced by E10.5 and is undetectable by E12.5. In conclusion, this study reveals novel aspects of the decidual SA muscular coat phenotype prior to and during early SAR that may have important implications for understanding the mechanisms of SAR. © 2011 Elsevier Inc. 416 211 216 Cited By :8
- Published
- 2011
11. Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
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Papazachariou, Louiza, Demosthenous, Panayiota, Pieri, Myrtani, Papagregoriou, Gregory N., Savva, Isavella, Stavrou, Christoforos V., Zavros, Michalis, Athanasiou, Yiannis, Ioannou, Kyriakos, Patsias, Charalambos, Panagides, Alexia, Potamitis, Costas, Demetriou, Kyproula, Prikis, Marios, Hadjigavriel, Michalis, Kkolou, Maria, Loukaidou, Panayiota, Pastelli, Androulla, Michael, Aristos, Lazarou, Akis, Arsali, Maria, Damianou, Loukas, Goutziamani, Ioanna, Soloukides, Andreas P., Yioukas, Lakis, Elia, Avraam, Zouvani, Ioanna, Polycarpou, Polycarpos, Pierides, Alkis M., Voskarides, Konstantinos, Constantinou-Deltas, Constantinos D., Demosthenous, Panayiota M., Voskarides, Konstantinos A., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
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Male ,Aging ,Pathology ,sequence analysis ,kidney dysfunction ,kidney disease ,polymerase chain reaction ,Nephritis, Hereditary ,urologic and male genital diseases ,Autoantigens ,nephritis ,middle aged ,Renal Failure ,genetics ,Greece ,Glomerulosclerosis, Focal Segmental ,Glomerular basement membrane ,adult ,thin basement membrane nephropathy ,High-Throughput Nucleotide Sequencing ,tumstatin ,Endoplasmic Reticula ,aged ,Nephrology ,Medicine ,Cellular Structures and Organelles ,focal glomerulosclerosis ,Collagen Type IV ,medicine.medical_specialty ,phenotype ,Science ,kidney biopsy ,DNA sequence ,Article ,Nephropathy ,Genetics ,Renal Diseases ,Point Mutation ,Humans ,human ,end stage renal disease ,COL4A3 gene ,Aged ,Hematuria ,human cell ,Biology and Life Sciences ,DNA ,medicine.disease ,major clinical study ,Endocrinology ,Mutation ,glomerulus basement membrane ,Kidney Failure, Chronic ,genetic transfection ,proteinuria ,mutation ,podocyte ,preschool child ,Basement Membrane ,Glomerulonephritis ,Focal segmental glomerulosclerosis ,Chronic Kidney Disease ,Glomerular Basement Membrane ,Medicine and Health Sciences ,gene mutation ,Microscopic hematuria ,child ,Secretory Pathway ,Multidisciplinary ,Podocytes ,COL4A4 gene ,cell line ,unfolded protein response ,Middle Aged ,chronic kidney failure ,autoantigen ,Extracellular Matrix ,medicine.anatomical_structure ,female ,Cell Processes ,Female ,COL4A4 protein, human ,Research Article ,Adult ,Cell Line ,Frameshift mutation ,high throughput sequencing ,male ,collagen type 4 ,Internal medicine ,medicine ,heterozygosity ,controlled study ,family study ,Alport syndrome ,Cypriot ,cell culture ,Base Sequence ,business.industry ,aging ,Glomerulosclerosis ,Human Genetics ,nucleotide sequence ,Cell Biology ,Sequence Analysis, DNA ,type IV collagen alpha3 chain ,hematuria ,Unfolded Protein Response ,pathology ,business ,metabolism ,genetic predisposition ,Kidney disease - Abstract
Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies. © 2014 Papazachariou et al. 9 12 Cited By :13
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- 2014
12. Epistatic role of the MYH9/APOL1 region on familial hematuria genes
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Voskarides, Konstantinos, Demosthenous, Panayiota, Papazachariou, Louiza, Arsali, Maria, Athanasiou, Yiannis, Zavros, Michalis, Stylianou, Konstantinos G., Xydakis, D., Daphnis, Eugenios K., Gale, D. P., Maxwell, P. H., Elia, Avraam, Pattaro, C., Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
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Male ,Pathology ,genetic association ,kidney disease ,genetic risk ,urologic and male genital diseases ,Gastroenterology ,Linkage Disequilibrium ,lcsh:Science ,quantitative analysis ,adult ,thin basement membrane nephropathy ,Molecular Motor Proteins ,allele ,Apolipoprotein L1 ,Proteinuria ,real time polymerase chain reaction ,Nephrology ,Cohort ,Disease Progression ,Medicine ,disease severity ,Lipoproteins, HDL ,marker gene ,medicine.medical_specialty ,phenotype ,Single-nucleotide polymorphism ,glomerulopathy ,Nephropathy ,complement component C3 ,Molecular Genetics ,Genetic Mutation ,Genetics ,Humans ,human ,Renal Insufficiency, Chronic ,genetic epistasis ,Biology ,COL4A3 gene ,Alleles ,Aged ,Hematuria ,Myosin Heavy Chains ,lcsh:R ,medicine.disease ,major clinical study ,gene linkage disequilibrium ,gene function ,Apolipoproteins ,lcsh:Q ,Dialysis ,haplotype ,lcsh:Medicine ,Epigenesis, Genetic ,hereditary hematuria ,APOL1 gene ,single nucleotide polymorphism ,genetic variability ,Molecular Cell Biology ,Chronic Kidney Disease ,gene mutation ,Multidisciplinary ,messenger RNA ,article ,COL4A4 gene ,Exons ,Middle Aged ,biological marker ,female ,CFHR5 gene ,Female ,Research Article ,Clinical Pathology ,sex difference ,Polymorphism, Single Nucleotide ,male ,Glomerulopathy ,Diagnostic Medicine ,Internal medicine ,medicine ,controlled study ,complement component C3 gene ,Alport syndrome ,Genetic Association Studies ,Clinical Genetics ,business.industry ,Mutation Types ,Human Genetics ,gene structure ,myosin heavy chain 9 gene ,hematuria ,Haplotypes ,Genetics of Disease ,CFHR5 nephropathy ,business ,CFHR5 ,Kidney disease - Abstract
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. E1 and S1 MYH9 haplotypes and variant rs11089788 were analyzed for association with disease phenotype. Evidence for association with "Severe" progression in CFHR5 nephropathy was found with MYH9 variant rs11089788 and was confirmed in an independent FH cohort, D (cumulative p value = 0.001, odds ratio = 3.06, recessive model). No association was found with APOL1 gene. Quantitative Real time PCR did not reveal any functional significance for the rs11089788 risk allele. Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients. © 2013 Voskarides et al. 8 Cited By :3
- Published
- 2012
13. Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis
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Elia, Avraam, Voskarides, Konstantinos, Demosthenous, Panayiota, Michalopoulou, A., Malliarou, M. -A, Georgaki, Eleni, Athanasiou, Yiannis, Patsias, Charalambos, Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
- Subjects
polymerase chain reaction ,genotype phenotype correlation ,kidney calcification ,Prenatal diagnosis ,preschool child ,Pregnancy ,kidney tubule acidosis ,Mutation dating ,guanine ,genetics ,cysteine ,restriction fragment length polymorphism ,child ,clinical article ,Greece ,adult ,article ,Acidosis, Renal Tubular ,perception deafness ,Founder Effect ,atp6v1b1 gene ,Sensorineural hearing loss ,V-ATPase subunit B1 ,female ,priority journal ,Child, Preschool ,citrate potassium plus citrate sodium ,Vacuolar Proton-Translocating ATPases ,DNA sequence ,Founder mutations ,Young Adult ,male ,hypokalemia ,Humans ,heterozygosity ,human ,gene ,citrate sodium ,disease association ,Infant ,DNA ,school child ,Distal renal tubular acidosis ,threonine ,Pregnancy Complications ,Hellenic population ,Cyprus ,rhabdomyolysis ,founder mutation ,mutation - Abstract
Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations. Methods: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family. Results: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier. Conclusion: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health. Copyright © 2010 S. Karger AG, Basel. 117 c206 c212 Cited By :6
- Published
- 2011
14. Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing
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Papazachariou, Louiza, primary, Demosthenous, Panayiota, additional, Pieri, Myrtani, additional, Papagregoriou, Gregory, additional, Savva, Isavella, additional, Stavrou, Christoforos, additional, Zavros, Michael, additional, Athanasiou, Yiannis, additional, Ioannou, Kyriakos, additional, Patsias, Charalambos, additional, Panagides, Alexia, additional, Potamitis, Costas, additional, Demetriou, Kyproula, additional, Prikis, Marios, additional, Hadjigavriel, Michael, additional, Kkolou, Maria, additional, Loukaidou, Panayiota, additional, Pastelli, Androulla, additional, Michael, Aristos, additional, Lazarou, Akis, additional, Arsali, Maria, additional, Damianou, Loukas, additional, Goutziamani, Ioanna, additional, Soloukides, Andreas, additional, Yioukas, Lakis, additional, Elia, Avraam, additional, Zouvani, Ioanna, additional, Polycarpou, Polycarpos, additional, Pierides, Alkis, additional, Voskarides, Konstantinos, additional, and Deltas, Constantinos, additional
- Published
- 2014
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15. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
- Author
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Pierides, Alkis M., Voskarides, Konstantinos, Athanasiou, Yiannis, Ioannou, Kyriakos, Damianou, Loukas, Arsali, Maria, Zavros, Michalis, Pierides, M., Vargemezis, V., Patsias, Charalambos, Zouvani, Ioanna, Elia, Avraam, Kyriacou, Kyriacos C., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
- Subjects
Male ,Pathology ,Nephritis, Hereditary ,urologic and male genital diseases ,Autoantigens ,Focal segmental glomerulosclerosis ,col 4a3 gene ,Medicine ,gene mutation ,Age of Onset ,Focal segmental glomerulosclerosis (FSGS) ,Child ,familial disease ,Proteinuria ,medicine.diagnostic_test ,Glomerulosclerosis, Focal Segmental ,disease course ,article ,Middle Aged ,female genital diseases and pregnancy complications ,Pedigree ,priority journal ,risk factor ,Nephrology ,Child, Preschool ,Female ,Renal biopsy ,medicine.symptom ,focal glomerulosclerosis ,Benign familial microscopic haematuria (BFMH) ,Adult ,Collagen Type IV ,medicine.medical_specialty ,Heterozygote ,Adolescent ,prevalence ,Nephropathy ,Thin basement membrane nephropathy (TBMN) ,Humans ,controlled study ,human ,Alport syndrome ,ESRD ,gene ,Aged ,Hematuria ,Transplantation ,business.industry ,Glomerulosclerosis ,medicine.disease ,major clinical study ,Heterozygous COL4A3COL4A4 gene mutations ,hematuria ,col 4a4 gene ,Cyprus ,Mutation ,Kidney Failure, Chronic ,Age of onset ,proteinuria ,business ,chronic kidney disease ,Kidney disease - Abstract
Background. Heterozygous mutations in the COL4A3 COL4A4 genes are currently thought to be responsible for familial benign microscopic haematuria and maintenance of normal long-term kidney function.Methods. We report on 11 large Cypriot pedigrees with three such mutations. A total of 236 at-risk family members were genetically studied, and 127 (53.8) carried a heterozygous mutation. Clinico-pathological correlations were available in all of these patients. Renal biopsies in 21 of these patients all showed various stages of focal, segmental glomerulosclerosis (FSGS). Thirteen of these biopsies were also studied with EM and showed thinning of the glomerular basement membrane.Results. Mutation G1334E (COL4A3) was found in six pedigrees, mutation G871C (COL4A3) in four and mutation 3854delG (COL4A4) in one pedigree. Clinical and laboratory correlations in all 127 mutation carriers (MC) showed that microscopic haematuria was the only urinary finding in patients under age 30. The prevalence of 'haematuria alone' fell to 66 between 31 and 50 years, to 30 between 51 and 70 and to 23 over age 71. Proteinuria with CRF developed on top of haematuria in 8 of all MC between 31 and 50 years, to 25 between 51 and 70 years and to 50 over 71 years. Altogether 18 of these 127 MC (14) developed ESRD at a mean age of 60 years. Two members with different mutations married, and two of their children inherited both mutations and developed adolescent, autosomal recessive Alport syndrome (ATS), confirming that these mutations are pathogenic.Conclusions. Our data confirm for the first time a definite association of heterozygous COL4A3COL4A4 mutations with familial microscopic haematuria, thin basement membrane nephropathy and the late development of familial proteinuria, CRF, and ESRD, due to FSGS, indicating that the term 'benign familial haematuria' is a misnomer, at least in this cohort. A strong hypothesis for a causal relationship between these mutations and FSGS is also made. Benign familial haematuria may not be so benign as commonly thought. 24 2721 2729 Cited By :47
- Published
- 2009
16. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
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Feldman, M., Prikis, Marios, Athanasiou, Yiannis, Elia, Avraam, Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
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haplotype ,extracorporeal lithotripsy ,chloride ,recessive inheritance ,DNA Mutational Analysis ,alkali ,kidney calcification ,genetic analysis ,child death ,genetic linkage ,genetic variability ,rickets ,genetic polymorphism ,kidney tubule acidosis ,guanine ,gene mutation ,Child ,kidney function ,clinical article ,Greece ,adult ,disease course ,potassium ,article ,Acidosis, Renal Tubular ,acid base balance ,Founder effect ,perception deafness ,Pedigree ,female ,priority journal ,Child, Preschool ,Disease Progression ,carbonate dehydratase ,proton ,Vacuolar Proton-Translocating ATPases ,Adolescent ,Distal renal tubular acidosis (dRTA) ,Hearing Loss, Sensorineural ,European Continental Ancestry Group ,failure to thrive ,hypokalemic periodic paralysis ,DNA sequence ,basolateral membrane ,bicarbonate ,DNA determination ,Genes, Recessive ,male ,chloride transport ,Humans ,linkage analysis ,family study ,human ,chromosome 2 ,kidney collecting tubule ,ureter stone ,perinatal period ,prenatal diagnosis ,X-Rays ,proton transporting adenosine triphosphatase ,Infant ,DNA ,Greek Cypriot families ,autosomal dominant inheritance ,age ,Haplotypes ,Cyprus ,Mutation ,ATPV1B1 gene ,prognosis ,proton transport ,homozygosity ,kidney colic ,tyrosine ,nephrolithiasis - Abstract
The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal part of acid-base homeostasis, which is partly achieved by the regulated luminal secretion of H+ at the apical surfaceof the α-intercalated cells of renal collecting ducts. This is coupled tobicarbonate reabsorption with chloride counter transport across the basolateral membranes Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. DNA linkage analysis with four polymorphic markers flanking the ATP6V1B1 gene on chromosome 2 gave evidence for positive linkage direct DNA analysis byautomated DNA sequencing revealed that patients in one family were homozygous for mutation 229+1G>T (IVS7+1G>T) and that patients in the second family were compound heterozygous for 229+1G>T andR157C. The mutations were found on four different haplotypes. Both the mutations were previously reported in patients of Turkish origin.Three known polymorphic variants were also identified. The five patients demonstrated the whole clinical spectrum of the disease including death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis. Some of the family members are now in their mid 30s and late 20s, and nephrolithiasis with recurrent renal colics is their main problem. Renal function has remained normal. In conclusion, early diagnosis in infancy and prompt treatment with alkali and potassium supplements is of great benefit to the patient with dRTA and ensures normal growth. The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis. © Blackwell Munksgaard, 2006. 69 135 144 Cited By :16
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- 2006
17. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes
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Voskarides, Konstantinos, primary, Demosthenous, Panayiota, additional, Papazachariou, Louiza, additional, Arsali, Maria, additional, Athanasiou, Yiannis, additional, Zavros, Michalis, additional, Stylianou, Kostas, additional, Xydakis, Dimitris, additional, Daphnis, Eugenios, additional, Gale, Daniel P., additional, Maxwell, Patrick H., additional, Elia, Avraam, additional, Pattaro, Cristian, additional, Pierides, Alkis, additional, and Deltas, Constantinos, additional
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- 2013
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18. Founder Mutations in the ATP6V1B1 GeneExplain Most Cypriot Cases of Distal Renal Tubular Acidosis: First Prenatal Diagnosis
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Elia, Avraam, primary, Voskarides, Konstantinos, additional, Demosthenous, Panayiota, additional, Michalopoulou, Aikaterini, additional, Malliarou, Maria-Adamantia, additional, Georgaki, Eleni, additional, Athanasiou, Yiannis, additional, Patsias, Charalambos, additional, Pierides, Alkis, additional, and Deltas, Constantinos, additional
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- 2011
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19. Hemophagocytic Lymphohistiocytosis Associated With Epstein Barr Virus and Leishmania donovani Coinfection in a Child From Cyprus
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Koliou, Maria G., primary, Soteriades, Elpidoforos S., additional, Ephros, Moshe, additional, Mazeris, Apostolos, additional, Antoniou, Maria, additional, Elia, Avraam, additional, and Novelli, Vas, additional
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- 2008
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20. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes.
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Voskarides, Konstantinos, Demosthenous, Panayiota, Papazachariou, Louiza, Arsali, Maria, Athanasiou, Yiannis, Zavros, Michalis, Stylianou, Kostas, Xydakis, Dimitris, Daphnis, Eugenios, Gale, Daniel P., Maxwell, Patrick H., Elia, Avraam, Pattaro, Cristian, Pierides, Alkis, and Deltas, Constantinos
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FAMILIAL diseases ,HEMATURIA ,PROTEINURIA ,CHRONIC diseases ,KIDNEY diseases ,DISEASE progression ,BIOMARKERS ,MOLECULAR genetics ,PATIENTS - Abstract
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as “Mild” (controls) or “Severe” (cases), based on renal manifestations. E1 and S1 MYH9 haplotypes and variant rs11089788 were analyzed for association with disease phenotype. Evidence for association with “Severe” progression in CFHR5 nephropathy was found with MYH9 variant rs11089788 and was confirmed in an independent FH cohort, D (cumulative p value = 0.001, odds ratio = 3.06, recessive model). No association was found with APOL1 gene. Quantitative Real time PCR did not reveal any functional significance for the rs11089788 risk allele. Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients. [ABSTRACT FROM AUTHOR]
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- 2013
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21. Hemophagocytic Lymphohistiocytosis Associated With Epstein Barr Virus and Leishmania donovaniCoinfection in a Child From Cyprus
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Koliou, Maria G., Soteriades, Elpidoforos S., Ephros, Moshe, Mazeris, Apostolos, Antoniou, Maria, Elia, Avraam, and Novelli, Vas
- Abstract
We present a case of a 9-month-old girl from Cyprus with hemophagocytic lymphohistiocytosis associated with Epstein Barr virus and Leishmania donovanicoinfection. Treatment with liposomal amphotericin B resulted in a dramatic resolution of clinical and laboratory abnormalities. To our knowledge, this is the first reported case of a coinfection-associated hemophagocytic lymphohistiocytosis and the first clinical report of visceral leishmaniasis infection in Europe by L. donovani.
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- 2008
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22. Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
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Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, and Deltas C
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- Acidosis, Renal Tubular diagnosis, Acidosis, Renal Tubular epidemiology, Adult, Child, Child, Preschool, Cyprus epidemiology, Female, Humans, Infant, Male, Pregnancy, Pregnancy Complications diagnosis, Young Adult, Acidosis, Renal Tubular genetics, Founder Effect, Mutation genetics, Pregnancy Complications genetics, Prenatal Diagnosis methods, Vacuolar Proton-Translocating ATPases genetics
- Abstract
Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations., Methods: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family., Results: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier., Conclusion: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health., (Copyright © 2010 S. Karger AG, Basel.)
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- 2011
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