Browsing by Subject "proteinuria"

Now showing items 1-14 of 14

Article

Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies

Gross, O.; Perin, L.; Constantinou-Deltas, Constantinos D. (2014)

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the ...
Article

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

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. (2009)

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 ...
Article

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure

Stefanou, Charalambos; Pieri, Myrtani; Savva, Isavella; Georgiou, Georgios C.; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2015)

BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement ...
Article

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

Constantinou-Deltas, Constantinos D.; Pierides, Alkis M. (2015)
Article

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

Voskarides, Konstantinos; Damianou, Loukas; Neocleous, Vassos; Zouvani, Ioanna; Christodoulidou, Stalo; Hadjiconstantinou, Valsamakis E.; Ioannou, Kyriakos; Athanasiou, Yiannis; Patsias, Charalambos; Alexopoulos, Efstathios; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2007)

Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...
Article

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

Voskarides, Konstantinos; Arsali, Maria; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)

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 ...
Article

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

Athanasiou, Yiannis; Voskarides, Konstantinos; Gale, D. P.; Damianou, Loukas; Patsias, Charalambos; Zavros, Michalis; Maxwell, P. H.; Cook, H. T.; Demosthenous, Panayiota; Hadjisavvas, Andreas; Kyriacou, Kyriacos C.; Zouvani, Ioanna; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)

Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
Article

A family with the branchio-oto-renal syndrome: Clinical and genetic correlations

Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)

Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
Article

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

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. (2014)

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 ...
Article

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

Papazachariou, Louiza; Demosthenous, Panayiota M.; 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 A.; Constantinou-Deltas, Constantinos D. (2014)

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 ...
Article

Molecular genetics of familial hematuric diseases

Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Voskarides, Konstantinos (2013)

The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 ...
Article

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'

Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)
Article

RAAS inhibition and the course of Alport syndrome

Savva, Isavella; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2016)

Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder ...
Article

Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease?

Constantinou-Deltas, Constantinos D. (2009)

Browsing by Subject "proteinuria"

Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies ﻿

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure ﻿

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis ﻿

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy ﻿

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria ﻿

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees ﻿

A family with the branchio-oto-renal syndrome: Clinical and genetic correlations ﻿

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 ﻿

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 ﻿

Molecular genetics of familial hematuric diseases ﻿

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations' ﻿

RAAS inhibition and the course of Alport syndrome ﻿

Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease? ﻿

Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

A family with the branchio-oto-renal syndrome: Clinical and genetic correlations

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

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

Molecular genetics of familial hematuric diseases

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'

RAAS inhibition and the course of Alport syndrome

Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease?