Results 21 to 30 of about 12,991 (277)
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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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
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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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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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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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Review of presentations at the 6th European Lupus Meeting 3-5 March 2005. [PDF]
, 2005 The 6th European Lupus Meeting was held at the Royal College of Physicians of London and was attended by 450 delegates. The conference brought together leading speakers from Europe and North America who reviewed current knowledge and exciting new ...
Bowman, SJ +3 more
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A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
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Pathology of hereditary nephritis [PDF]
Journal of Clinical Pathology, 1968 This report describes the renal pathology in three siblings with hereditary nephritis. All three cases showed combined features of chronic glomerulonephritis, pyelonephritis, and interstitial nephritis. Foam cells were seen in only one case. These findings support the contention of Krickstein, Gloor, and Balogh (1966) that the renal changes in ...
openaire +2 more sources
Allergy, Asthma & Clinical Immunology, 2022 Background Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE).
Yusuke Ushio +13 more
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