Two male siblings having cystinosis were studied physiologically as well as anatomically. The functional defects correlated with shortening and deformity of proximal tubules as determined by measurements made of microdissected nephrons. This report may give impetus to the thesis that the morphological abnormality of the "congenital" Fanconi syndrome associated with cystinosis is an acquired lesion, worsening with the passage of time.
Teree TM, Friedman AB, Kest LM, Fetterman GH. Cystinosis and Proximal Tubular Nephropathy in Siblings: Progressive Development of the Physiological and Anatomical Lesion. Am J Dis Child. 1970;119(6):481–487. doi:10.1001/archpedi.1970.02100050483005
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