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
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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
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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
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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
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Zdorovʹe Rebenka, 2017 Background. Nephropathy associated with hematuria progress represent the greatest differential diagnostic difficulties because of the similarity of clinical manifestations, especially at the early stages of the disease, which tend to prolonged and ...
V.A. Minakova +2 more
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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
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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
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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
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Acute tubulo-interstitial nephritis : clinical profile and pathogenic mechanisms [PDF]
, 2010 Acute tubulointerstitial nephritis (ATIN) is an important cause of renal morbidity. This study showed that it represents up to 8% of acute renal failure where biopsy material was available and accounted for 1% of all renal biopsy material.
Elmedhem, Abdurrezagh Mansur
core +7 more sources
Treatment of active lupus nephritis with the novel immunosuppressant 15-deoxyspergualin : an open-label dose escalation study [PDF]
, 2011 Introduction: As the immunosuppressive potency of 15-deoxyspergualin (DSG) has been shown in the therapy of renal transplant rejection and Wegener's granulomatosis, the intention of this study was to evaluate the safety of DSG in the therapy of lupus ...
Hauser, Ingeborg A. +21 more
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