Benign familial haematuria in children from the Jewish communities of Israel: Clinical and genetic studies

B. Eisenstein, H. Stark, R. M. Goodman

Research output: Contribution to journalArticlepeer-review

Abstract

Over 7 years 130 children were referred for prolonged isolated haematuria of unknown cause. In 34 instances, haematuria was also found in one or more family members. In 23 of these families (18% of all referrals for isolated haematuria), investigation and follow-up, for periods of 5 to 10 years, of the index cases and of 56 haematuric relatives showed no evidence of renal disease and no other pathological findings. These subjects were diagnosed as having benign familial haematuria. The gene for benign familial haematuria is apparently transmitted as an autosomal dominant with reduced penetrance and variable expressivity. In Israel, the disorder seems to be more frequent among Jews of non-Ashkenazi descent than among those of European ancestry (Ashkenazim).

Original languageEnglish
Pages (from-to)369-372
Number of pages4
JournalJournal of Medical Genetics
Volume16
Issue number5
DOIs
StatePublished - 1979

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