Familial juvenile nephronophthisis. Experience with eleven cases.

Familial juvenile nephronophthisis (FJN) has an incidence in British Columbia of 1 per 50000 live births which gives a heterozygote frequency of 1 per 115. The authors report six families with a total of 11 cases. Multiple affected sibs are described in three families and in no instance was the condition present in more than one generation. The inheritance pattern is consistant with an autosomal recessive trait. The characteristic features are polyuria and azotemia though the presenting features may be either anemia or growth retardation with polyuria being elicited in the functional inquiry. There is a very hypotonic urine and absence of urinary sediment. Decreasing renal function at a variable rate is the fate of these patients, three of whom have had cadaver transplants.