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Alport Syndrome

Known as: Hereditary Nephritis, NEPHRITIS WITH NERVE DEAFNESS, HEREDITARY, HEREDITARY NEPHRITIS ALPORTS SYNDROME 
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females… 
National Institutes of Health

Related topics

Related topics

12 relations
Alport Syndrome, X-LinkedCOL4A3 geneCOL4A3 wt AlleleCOL4A5 gene

Broader (5)

Hereditary DiseasesHereditary nephritisNephritisSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Immunocytology in the assessment of patients with asymptomatic hematuria
Painless hematuria has remained a diagnostic challenge in daily urological practice. Key problem in the assessment of these… 
1994
1994
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
A variety of mutations have been identified in the X-linked type IV collagen alpha 5 chain (COL4A5) gene in patients with Alport… 
1992
1992
Heparin-induced thrombocytopenia in renal failure.
A 35-year-old patient with symptomatic chronic renal failure secondary to hereditary nephritis underwent heparinization during… 
1991
1991
Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine alpha 3 chain of type IV collagen.
1991
1991
Diffuse esophageal leiomyomatosis in a patient with Alport syndrome: CT demonstration.
In a patient with progressive dysphagia, postprandial vomiting, and a history of Alport syndrome, barium and manometric studies… 
Highly Cited
1990
Highly Cited
1990
Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome.
This report describes the development of anti-glomerular basement membrane (GBM) glomerulonephritis after kidney transplantation… 
1988
1988
Retinal abnormalities in Alport's syndrome
Abstract. The ophthalmological findings in 13 patients with Alport's syndrome are reported. Special attention was given to the… 
Review
1986
Review
1986
Glomerular basement membrane abnormalities associated with apparently idiopathic hematuria: ultrastructural morphometric analysis.
1978
1978
Reversal of Deafness After Renal Transplantation in Alport's Syndrome
Six patients (five men and one woman) with Alport's syndrome underwent successful renal transplantation (four received kidneys… 
1968
1968
Hereditary nephritis, retinitis pigmentosa and chromosomal abnormalities.
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