TY - JOUR
T1 - Benign familial haematuria in children from the Jewish communities of Israel
T2 - Clinical and genetic studies
AU - Eisenstein, B.
AU - Stark, H.
AU - Goodman, R. M.
PY - 1979
Y1 - 1979
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=0018690204&partnerID=8YFLogxK
U2 - 10.1136/jmg.16.5.369
DO - 10.1136/jmg.16.5.369
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C2 - 513083
AN - SCOPUS:0018690204
VL - 16
SP - 369
EP - 372
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 5
ER -