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Nephron, ISSN 1660-8151, 11/2019, Volume 143, Issue 4, pp. 288 - 292
Alport syndrome is a hereditary disease affecting Type IV collagen characterized by hematuria, progressive renal failure, sensorineural hearing loss, and... 
Experimental Nephrology and Genetics: Case Study of Genetic Interest | Pregnancy | WOMEN | BASEMENT-MEMBRANE NEPHROPATHY | COL4A3 | GENES | Autosomal recessive Alport syndrome | COL4A3/COL4A4 MUTATIONS | UROLOGY & NEPHROLOGY | IDENTIFICATION | FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Journal Article
Pharmacological Research, ISSN 1043-6618, 05/2016, Volume 107, pp. 205 - 210
Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach... 
Thin basement membrane nephropathy | Aldosterone blockade | Angiotensin converting enzyme inhibitors | Angiotensin receptor blockers | Alport syndrome | Renin angiotensin aldosterone system | ARAS autosomal recessive AS | ARB(s) angiotensin receptor blocker(s) | CKD chronic kidney disease | XLAS X-linked AS | SP spironolactone | Abbreviations RAAS renin angiotensin aldosterone system | ESRD end-stage renal disease | ACEi(s) angiotensin converting enzyme inhibitor(s) | AS Alport syndrome | TBMN thin basement membrane nephropathy | PROLONGS SURVIVAL | CONTROLLED TRIAL | ACE-INHIBITOR | DIABETIC NEPHROPATHY | CONVERTING ENZYME-INHIBITION | CYCLOSPORINE-A | DELAYS RENAL-FAILURE | BASEMENT-MEMBRANE NEPHROPATHY | PHARMACOLOGY & PHARMACY | CHRONIC KIDNEY-DISEASE | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | Animals | Angiotensin-Converting Enzyme Inhibitors - therapeutic use | Humans | Angiotensin Receptor Antagonists - pharmacology | Collagen Type IV - genetics | Nephritis, Hereditary - genetics | Renin-Angiotensin System - drug effects | Angiotensin-Converting Enzyme Inhibitors - pharmacology | Nephritis, Hereditary - drug therapy | Angiotensin Receptor Antagonists - therapeutic use | Medical genetics | Enzyme inhibitors | Corticosteroids | Chronic kidney failure | Collagen | Analysis | Angiotensin converting enzyme | Stem cells | Angiotensin | Eye diseases | Development and progression | Transplantation
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 02/2019, Volume 8, Issue 2, p. 178
Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the... 
DIAGNOSIS | GENOTYPE-PHENOTYPE CORRELATIONS | MEMBRANE | MACROSCOPIC HEMATURIA | CLINICAL-FEATURES | systematic review | NATURAL-HISTORY | FAMILIAL HEMATURIA | COL4A3 gene | mutation | MEDICINE, GENERAL & INTERNAL | Alport syndrome | COL4A4 gene | MUTATIONS | autosomal recessive inheritance | CHINESE PATIENTS
Journal Article
by Sun, HL and Yu, XW and Li, SM and Xu, H and Yang, J and Yi, TG and Han, PG and Shao, MM
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2019, Volume 12, Issue 9, pp. 3565 - 3569
Alport syndrome (AS) is a familial hereditary nephropathy which is characterized by molecular abnormalities in Collagen IV a345. As more gene mutations are... 
PATHOLOGY | ONCOLOGY | autosomal recessive | COL4A4 mutation | Alport syndrome
Journal Article
Human Mutation, ISSN 1059-7794, 07/2005, Volume 26, Issue 1, pp. 60 - 60
Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 03/2016, Volume 42, Issue 3, pp. 331 - 335
We describe the course of pregnancy in a 27‐year‐old woman with homozygous autosomal recessive Alport syndrome. Genetic analysis revealed a homozygous COL4A4... 
nephrosis | Col4a4 | gene mutation | autosomal recessive | Alport syndrome | pregnancy | KIDNEY-DISEASE | WOMEN | OBSTETRICS & GYNECOLOGY | Pregnancy | Humans | Pregnancy Complications | Adult | Female | Nephritis, Hereditary | Pregnancy Outcome | Pregnant women | Analysis
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 03/2013, Volume 17, Issue 3, pp. 26 - 264
Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in... 
Short Reports | HETEROGENEITY | POLYMORPHISMS | MESSENGER-RNA | COLLAGEN GENE | BASEMENT-MEMBRANE NEPHROPATHY | GENETICS & HEREDITY | COL4A3/COL4A4 MUTATIONS | RENAL-FAILURE | DOMINANT | HEMATURIA | IDENTIFICATION | Turkey | Pedigree | Humans | Collagen Type IV - genetics | Nephritis, Hereditary - genetics | Adult | Female | Genotype | Male | Mutation | Autoantigens - genetics | Genes, Recessive
Journal Article
Zhonghua er ke za zhi. Chinese journal of pediatrics, ISSN 0578-1310, 02/2015, Volume 53, Issue 2, pp. 114 - 118
To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS). From May 2011 to May 2014, clinical and pathological... 
Deafness | Phenotype | Nephritis, Hereditary - pathology | Hematuria | Pedigree | Humans | Nephritis, Hereditary - genetics | Genotype | Mutation | Child | Genes, Recessive | Kidney
Journal Article