Familial adult glomerulocystic kidney disease.

During an evaluation for nephrotic syndrome, a 20-year-old woman was found by ultrasonographic examination to have large kidneys with multiple renal cysts suggestive of polycystic kidney disease. A subsequent renal biopsy revealed membranous glomerulopathy due to systemic lupus erythematosus, as well as the unexpected finding of glomerulocystic kidney disease (GCKD), an uncommon disorder previously reported to occur primarily in infants and children. No evidence of renal dysplasia was present and no cysts were found in any abdominal or pelvic organs. Other than one bifid renal pelvis, no significant congenital anomalies or structural chromosomal abnormalities were present. Ultrasonographic evaluation of the patient's family revealed similar-appearing cortical cysts in several members, all of whom had no clinical evidence of renal dysfunction. The pattern of involvement was compatible with autosomal dominant inheritance. Follow-up ultrasonograms of the patient and affected family members 1 year after the initial study showed enlargement of the cysts with development of additional cysts in two individuals and no change in the other family members. Although renal failure was present and progressed in our patient, renal function remained normal in all affected family members 1 year after detection of the renal cysts. This patient and her family provide additional insight into the inheritance and natural history of GCKD and demonstrate that this condition should be considered in the evaluation of multicystic renal disease in adults. In contrast to several previously reported cases, it appears that GCKD may be associated with normal renal function for many years.