Polycystic Kidney Disease Flashcards
Two types
Infantile
Adult
Gene in infantile PCKD
PkHD gene ( autosomnal resessive)
chromosome 6
Not compatable with life
Die due to hepatic fibrosis
Genetice of adult polysistic kidney disease
Autosomnal dominant
PKD 1(CH 16) & PKD 2(ch 4)
Fate of adult PCKD
Compatablr with life
Cyst in kidney enlarge
Press on normal renal parenchyma
Renal function suffers
Males»»females(progression)
Adult PCKD become symptomatic at
3rd decade of life
CF of adult PCKD
Hypertension (mc)
Mass
Pain
Hematuria
Extra renal manifestations of adult PCKD
Hepatic cyst(mc)
Cyst can be seen in spleen, pancreas, lungs
Colonic diverticulae
Mitrial valve prolapse
Berry aneurysm in circle of willis ( sub arachnoid hemorrhage)
Diagnosis
USG
Prenatal USG
If more than 3 cyst u/l or b/l or more than 2 cyst in each kidney
Pain in PCKD is due to
Hemorrhage
Stones
Uric acid stone is more common
Management
Long term dialysis
Transplant
Rousing or deroofing of cyst ( not useful)
Tablets in PCKD
mTOR
vasopressin v2 receptor antagonist
Diffrential diagnosis in PCKD is
Multicystic dysplastic kidney
Multicystic dysplastic kidney
Ul Or bl
Bl is not compatanle with life
Ul will have abdominal lump
In adults there will be rapid progression to renal failure
Atresia of ureter
