NEPHRONO‐PHTHISIS

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Abstract
Eighteen index cases of nephrono‐phthisis have been found and their first‐degree relatives, and in some instances also more remote relatives, have been examined to elucidate the transmission and the variability of the clinical expression of the disease. This examination included analysis of available clinical records, renal function tests in living individuals and histological re‐evaluation of available kidney specimens. The findings suggest that: 1) the disease may appear in succeeding generations; there is some evidence in favor of a dominant autosomal inheritance, although no definite conclusions are drawn concerning the type of transmission; 2) adult patients may exhibit a disease pattern the features of which are difficult to identify both from the clinical and morphological points of view.It is re‐emphasized that “medullary cystic disease” and “familial juvenile nephrono‐phthisis” constitute one and the same disease.