Homozygous cystinuria in New South Wales. A study of 110 individuals with cystinuria ascertained by methods other than neonatal screening.

@article{Smith1984HomozygousCI,
  title={Homozygous cystinuria in New South Wales. A study of 110 individuals with cystinuria ascertained by methods other than neonatal screening.},
  author={Angelina Smith and Bridget Wilcken},
  journal={The Medical journal of Australia},
  year={1984},
  volume={141 8},
  pages={500-2}
}
Homozygous cystinuria was ascertained in 110 individuals (44 men) from 78 families because of symptoms in the propositi. The most common renal symptoms were calculi which occurred in 91% of the propositi and in 52% of affected family members. One-third of patients had urinary tract infections. There was a high rate of renal morbidity at an early age; 16… CONTINUE READING