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Familial haematuria: when to consider genetic testing
  1. Judy Taylor1,
  2. Frances Flinter2
  1. 1Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St Thomas’ NHS FT, London, UK
  2. 2Clinical Genetics Department, Guy's and St Thomas’ NHS FT, London, UK
  1. Correspondence to Professor Frances Flinter, Clinical Genetics Department, Guy's and St Thomas’ NHS FT, 7th floor Borough Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK; Frances.Flinter{at}gstt.nhs.uk

Abstract

Haematuria is a common finding in children. It is important to identify the underlying cause whenever possible so that appropriate follow-up is organised, particularly if the child is at risk of developing renal impairment or renal failure in later life. Until recently nephrologists relied on renal biopsy with examination under the electron microscope to make a diagnosis, but genetic testing can often provide an answer, together with additional information about the pattern of inheritance, which is also useful for other family members.

  • Nephrology
  • Genetics
  • Deafness
  • Ophthalmology
  • Molecular Biology

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