The phenotypes caused by PKHD1 mutations are similarly complicated, ranging from perinatally-fatal PKD to CHF presenting in adulthood with mild kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD, autosomal dominant PKD or adult-onset PKD) is the most prevalent and potentially lethal kidney disease that is hereditary and lacks effective treatment.
Ten variables (age, sex, DM, GN, PKD, serum hemoglobin, serum blood urea nitrogen[BUN], serum calcium, eGFR(calculated by Modification of Diet in Renal Disease[MDRD]), and urinary protein) were included in the final risk prediction model for CKD stage 4 (R2 = 0.386).
Moreover, the stem cell therapy can improve nephropathies and according to studies were done in this field, can be considered as a hopeful therapeutic approach in future for PKD.