Polycystic Kidney Disease (Pathophysiology (PKD-2 encodes polycystein 2…
Polycystic Kidney Disease
this is a genetic condition that is autosomal dominant. It is a process that is characterized by multiple cyst format that develop gradually and progressively throughout the kidney. This leads to kidney enlargement an kidney tissue destruction
Affects 1 in 1000 people every year
Usually presents in adulthood (20-30 yrs old)
PKD is an autosomal dominant condition
More common in men than women
No body can have the homozygous dominant condition as these individual die in the womb
15% have PKD2 which makes them develop ESKD at the age of 70. This is caused by a faulty chromosome 4
85% have PKD1 gene and get ESRF by the age of 50. This is caused by a faulty chromosome 16
ESRF can progress faster if the patient is hypertensive, overweight or is diabetic
PKD-2 encodes polycystein 2 that allows the Ca2+ ion channel to function
The polycystein complex occurs in the cilia and is responsible for sensing flow into the tubule
PKD-1 encodes polycystein 1. This controls tubular vascular kidney development
The polycystein compounds reduce cytoplasmic Ca2+ and act on the principle cells of the collecting ducts causing defective ciliary signaling and disorientated cell division and cyst formation
Progressive loss of renal function is attributed to mechanical compression and apoptosis of healthy tissue
More cysts= more apoptosis of cell = reduced renal function
NOTE : EPO is preserved patient will not suffer from anaemia!!
CLINICALLY SILENT !
Loin pain (from stone formation or a UTI)
Loin or Abdo discomfort
Signs of ESRF: edema, fatigue, breathless, seizure, confusion and a decreased urine output
Extra renal signs
Need to do an ultrasound
Aged more than 60 and has more than 4 cysts in each kidney
If the patient is aged more than 40 and has less than 2 cysts PCKD can be excluded
Aged 40-59 and has more than 2 cysts in each kidney
Aged 15-39 and more than 3 cysts (uni/bilateral)
Need to do genetic testing for PKD-1 and PKD-2
Autosomal recessive PKD
Acquired or simple cysts of the kidney
Blood pressure raised you can give ACE inhibitors.
If patient presents with a stone determine whether it can be passed so give analgesia. If not do surgery or use radiotherapy to split it up.
Renal Replacement Therapy
Give emotional support to the patient
Genetic testing on family members
When should we do genetic testing?
Pre natal testing
Genetic testing should be done if a disease has an early onset
Atypical cystic disease