Nephronophthisis and medullary cystic kidney disease complex [PDF]
Vojnosanitetski Pregled, 2005 Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana +3 more
doaj +1 more source
Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis [PDF]
, 1982 Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. The finding of a characteristic ultrastructural lesion in the glomerular basement membranes (GBM) of patients with hereditary nephritis prompted us to study and ...
Stone, William J. +3 more
core +1 more source
Kidney International Reports, 2017 Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children.
Samar M. Said +11 more
doaj +1 more source
Hereditary angioedema (HAE) in children and adolescents : a consensus on therapeutic strategies [PDF]
, 2012 Hereditary angioedema due to C1 inhibitor (C1 esterase inhibitor) deficiency (types I and II HAE-C1-INH) is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema ...
Martinez-Saguer, I +35 more
core +2 more sources
Renal transplant in a child with Alport syndrome
Indian Journal of Transplantation, 2017 Alport syndrome is a rare inheritable renal disease characterized by renal, cochlear, and ocular involvement. Patients commonly require renal replacement therapy in the second or third decade of life.
Rajendra B Nerli +3 more
doaj +1 more source
Mild electrical stimulation and heat shock ameliorates progressive proteinuria and renal inflammation in mouse model of Alport syndrome. [PDF]
PLoS ONE, 2012 Alport syndrome is a hereditary glomerulopathy with proteinuria and nephritis caused by defects in genes encoding type IV collagen in the glomerular basement membrane. All male and most female patients develop end-stage renal disease. Effective treatment
Tomoaki Koga +8 more
doaj +1 more source
Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis [PDF]
, 1994 Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis. The distribution of α1-5 chains of type IV collagen [α1-5(IV)] in the glomerular basement membrane (GBM) and epidermal basement membrane (EBM) of 23 families with ...
Yoshikawa, Norishige +8 more
core +1 more source
Morphological characteristics of urine erythrocytes in children with erythrocyturia
Zdorovʹe Rebenka, 2017 Background. Nephropathies with erythrocyturia make up about 1/3 of all diseases of the kidneys and the urinary system, and they have some difficulties in differential diagnostics. Quite often, erythrocyturia is the only symptom of these diseases.
V.A. Minakova, I.V. Bagdasarova
doaj +1 more source
Autosomal Dominant Alport Syndrome Caused by a Novel COL4A4 Gene Mutation: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease.
GUO Ting, ZHANG Jian, DING Ying, YANG Xiaoqing, ZHAI Wensheng, SONG Chundong, ZHANG Xia, ZHANG Bo, GAO Xuguang, LIU Liya
doaj +1 more source
SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) [PDF]
, 2020 Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian
González-Santiago, S +20 more
core +2 more sources