Rare familial nephropathy due to abnormalities in type IV collagen.
May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic.
Associated with considerable clinical variability of age of onset of chronic renal failure. Frequently associated with sensorineural hearing loss.
Female carriers of X-linked mutations have a significant lifetime risk of developing hypertension and renal disease.
Strong genotype-phenotype correlations in X-linked Alport's syndrome have been described in male patients.
Monitoring and treatment of renal disease is the main treatment.
Alport's syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen. It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex) and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen. The classic thickening and lamellation of the glomerular basement produces a progressive haematuric nephritis that progresses to chronic renal failure in all males with the X-linked form of the disease.
History and exam
Richard N. Sandford, MBBS, PhD, FRCP
University Reader in Renal Genetics
Honorary Consultant in Medical Genetics
Academic Laboratory of Medical Genetics
University of Cambridge
Addenbrooke's Treatment Centre
RNS has served as an advisory board member and paid speaker for Otsuka Pharmaceuticals. RNS has had research grants and speakers' fees paid to the University of Cambridge from Otsuka Pharmaceuticals and Intercept Pharmaceuticals.
Clifford Kashtan, MD
Department of Pediatrics
University of Minnesota Medical School
CK declares that he has no competing interests.
Marie Clare Gubler, MD
Emeritus Director of Research
Institut National de la Santé et de la Recherche Médicale
Hôpital Necker-Enfants Malades
and Université Paris Descartes
MCG declares that she has no competing interests.
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