Genetics of Familial Hematuria
In a scholarly essay entitled Nature, Nurture, and Human Affairs, Scriver (1981) discussed the biologic origins of rickets in terms that can be modified for the better understanding of many other conditions, symptoms, or abnormalities in which a common phenotype (for example hematuria) may be the result of environmental factors, genetic factors, or an interaction between the two . Before the introduction of vitamin D into milk in the Province of Quebec, the vast majority of cases of rickets treated at The Montreal Childrens’ Hospital were the result of vitamin D deficiency; only a few cases of inherited rickets were seen. Following the addition of vitamin D to milk, only one case of vitamin-D-deficiency rickets was seen; thus the inherited forms of rickets came to represent the majority of rickets cases admitted, although the prevalence of these cases remained the same. In Scriver’s words, “The rickets volume was greatly decreased but the heritability of rickets had increased greatly because the origin of rickets had shifted from an extrinsic cause (vitamin D deficiency) to intrinsic causes (Mendelian causes of phosphate homeostasis).” A similarly dramatic, but less well-documented change has occurred in the biologic origins of hematuria in North America and possibly in Europe. Poststreptococcal glomerulonephritis was, in the past, the most frequent cause of hematuria in North America.
KeywordsGenetic Counseling Glomerular Basement Membrane Autosomal Dominant Polycystic Kidney Disease Alport Syndrome Membranoproliferative Glomerulonephritis
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