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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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
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Murine models of renal disease: Possibilities and problems in studies using mutant mice [PDF]
, 2000 The elucidation of the pathogenesis of human renal disease at the molecular level has been facilitated by the growing field of gene targeting and the development of mouse strains with single-gene deletions - the `knock-out' mice. Experimental nephrology,
Anders, Hans-Joachim +1 more
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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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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
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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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Molecular genetics of hereditary nephritis
Kidney International, 1992 Reeders, Stephen T.
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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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Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome
, 1995 Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome. Bull terrier hereditary nephritis is inherited as an autosomal dominant disease and causes renal failure at variable ages in affected dogs.
Hendtlass, Anne +11 more
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