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Medullary Cystic Disease vs Nephrophthisis

Kenneth D. Gardner Jr, MD
JAMA. 1975;234(10):1019. doi:10.1001/jama.1975.03260230019011.
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To the Editor.—  I wish to offer Drs Giangiacomo, Monteleone, and Witzleben an alternate explanation for their findings (232:629, 1975).In actuality, they documented nephrophthisis (adequately, in my opinion) in a single generation of 12 surviving siblings, whose parents were considered free of evidence of renal dysfunction. The renal deaths of earlier generations, not proven to be caused by medullary cystic disease, could reflect the fact that renal disease is the fourth leading cause of death, after heart disease, cancer, and stroke. I wish to suggest to the authors that recessive inheritance transmitted the renal lesion in their family and that the possibility that I am right, not wrong, in recognizing hereditary variance of medullary cystic disease remains unchallenged by their presentation.I wonder if this article would have been considered worthy of publication had these authors stood by their facts, rather than by speculation contained in the report. My


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