Polycystic Kidney Disease
ARPKD
ADPKD
- Presents in infancy
- Progressive interstitial fibrosis > tubular atrophy > CKD
- Associated with
- Oligohydramnios complex
- pulm hypoplasia, low-set ears, micrognathia, flattened nose, limb-positioning defects, and growth deficiency
- congenital hepatic fibrosis
- Oligohydramnios complex
ADPKD
- Most common inherited kidney disease 1:500
- PKD1 (85%) PKD2 (15%) genes codes polycystin1/2 respectively (1 more severe)
- Presents at any age (indistiguishable from AR in infancy with out FHx)
- hematuria, bilateral flank pain, mass, hypertension, and UTI
- multiorgan cysts: liver, pancreas, spleen, and ovaries
- brain aneurysm, MV prolapse, hernia, diverticula, renal cell carcinoma
- hematuria, bilateral flank pain, mass, hypertension, and UTI
- Dx Large kindeys, bilateral macrocysts, cysts in first degree relative (de novo in 5%)
- Isolated enlarged kidneys on antenatal scan with affected parents also diagnostic
- Rx Agressive BP control ACEi, ATII NOT Ca Ch Blocker
- Exacerbates: Obesity, caffeine , smoking, multiple pregnancies, the use of calcium channel