Table 1.

Clinical features reported in 20 patients from nine different families with GANAB mutations (1)

Clinical FeaturesNumber of Patients
Renal functioneGFR data were available in 15 patients (75%), and the eGFR range was 77–122 ml/min per 1.73 m2 obtained using the CKD-EPI equation in adults and the Schwarz formula in individuals of pediatric age; no individuals were reported to have ESRD
LiverFourteen patients (70%) had multiple liver cysts; of these, one had liver cystic disease requiring liver transplant at age 43 yr old, and another required liver resections at ages 47 and 48 yr old; one patient had a single liver cyst, four patients (20%) did not show evidence of liver cysts, and no data were available in one patient
HypertensionSix patients had hypertension, 12 patients did not have hypertension, and no data were available in two patients
Intracranial aneurysmTwo affected sisters had intracranial aneurysms; three additional patients from different families were reported to have either intracranial aneurysms or cerebral hemorrhage, but their PKD status is not known, and genetic analysis was not done on those patients
  • CKD-EPI, Chronic Kidney Disease Epidemiology Collaboration; PKD, polycystic kidney disease.