| Main clinical features
|
progressive chronic kidney disease associated with congenital anemia and intrauterine and postnatal growth retardation, and with elevated serum creatinine levels, and mild hyperuricemia
at kidney biopsies, multiple small foci of tubulointerstitial lesions, including clusters of atrophic tubules with thickened tubular basement membranes, and interstitial fibrosis
congenital anemia, neutropenia, gout in the second decade of life, and chronic kidney disease with recurrent infections in childhood |