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ARTICLE |

Medullary Cystic Disease vs Nephrophthisis-Reply

Joseph Giangiacomo, MD; Patricia L. Monteleone, MD; C. L. Witzleben, MD
JAMA. 1975;234(10):1019. doi:10.1001/jama.1975.03260230019012.
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In Reply.—  We appreciate the comments by Dr Gardner, with regard to the genetics of renal medullary cystic disease.According to results from the Vital Statistics of the United States1,2 from 1969 and 1971, mortality for all ages from renal disease was 14th, accounting for 0.4% of all deaths. In adolescents and young adults, mortality from renal disorders was not included in the ten most common causes.The first two generations, because of the lack of clinical and pathologic information, were not considered to have had medullary cystic disease. In contrast, the early deaths in the third generation, with the history of anemia and short stature, was compatible with nephrophthisis; however, the pathologic material was inadequate to confirm this. Autosomal recessive transmission indeed was not excluded as operative under these circumstances.

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