title: Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
abstract: BACKGROUND
  This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome.
  
  
  METHODS
  All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre.
  
  
  RESULTS
  Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease. Fourteen (93 %) individuals with autosomal recessive Alport syndrome developed early end-stage renal failure, all 15 had hearing loss, and most had lenticonus (12, 80 %), and a central (13, 87 %) or peripheral (13, 87 %) retinopathy. These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were less likely to have an affected family member in another generation (p = 0.01) than females with X-linked disease. They were more likely to have renal failure (p = 0.003), hearing loss (p = 0.02) and lenticonus (p < 0.001). Fifty percent had a central retinopathy compared with 18 % with X-linked disease (p = 0.14), but peripheral retinopathy prevalence was not different (p = 0.64). Nonsense mutations accounted for 67 % (8/12) of these disease-causing mutations.
  
  
  CONCLUSIONS
  Autosomal recessive inheritance is increased in females with Alport syndrome and early onset renal failure, hearing loss, lenticonus, and, possibly, central retinopathy.
authors.affiliation: Department of Medicine (Northern Health), The University of Melbourne, Epping, VIC, 3076, Australia.
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Wang
authors.forename: Vanessa
authors.initials: V
authors.lastname: Sivakumar
authors.forename: Mardhiah
authors.initials: M
authors.lastname: Mohammad
authors.forename: Deb
authors.initials: D
authors.lastname: Colville
authors.forename: Helen
authors.initials: H
authors.lastname: Storey
authors.forename: Frances
authors.initials: F
authors.lastname: Flinter
authors.forename: Hayat
authors.initials: H
authors.lastname: Dagher
authors.forename: Judy
authors.initials: J
authors.lastname: Savige
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D050172:Genes, X-Linked; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D034381:Hearing Loss / Q000235:genetics; D040941:Heredity; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012164:Retinal Diseases / Q000235:genetics; D012307:Risk Factors; D012737:Sex Factors; D013997:Time Factors; D055815:Young Adult