M. L. Purvis Jr., M.D.; V. M. Buckalew Jr., M.D.; M. G. Shulman, M.D.; D. R. Rudman, M.D.
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Hereditary renal tubular acidosis has been previously reported in 17 kindred. We describe a new 64-member family with renal tubular acidosis, the largest to be studied to date. Of the 64 members, 47 have been studied in detail. Six individuals in three consecutive generations (five, male, and one, female), 4 to 36 years of age, have nephrocalcinosis. All of these have hypercalciuria except one, who had hypercalciuria until he required hemodialysis. Four of these six patients have renal tubular acidosis; three have the incomplete and one has the complete form of the disease. Maximum urine osmolality was markedly impaired in
Purvis ML, Buckalew VM, Shulman MG, et al. Familial Renal Tubular Disease with Multiple Phenotypes Including Idiopathic Hypercalciuria and Renal Tubular Acidosis.. Ann Intern Med. 1973;78:829. doi: https://doi.org/10.7326/0003-4819-78-5-829_1
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Published: Ann Intern Med. 1973;78(5):829.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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