What is the most common mode of inheritance of polycystic kidney disease?
What mutations cause autosomal dominant polycystic disease?
Which chromosome is involved?
PKD1 on chromosome 16
PKD2 on chromosome 4
Which gene mutation most commonly causes autosomal dominant PKD?
PKD1 on chromosome 16
Which mutation, causing autosomal dominant PKD, carries the worst prognosis?
PKD1 (chromosome 16)
What is the long-term consequence of untreated PKD?
What happens in PKD?
Epithelium of renal tubules forms enlarged cysts
Is ADPKD unilateral or bilateral?
In PKD, the kidneys (increase / decrease) in size.
What can occur in the epithelium in ADPKD?
What are the symptoms of ADPKD?
Chronic loin pain
Dilute urine (Loops buggered so can't concentrate it)
What causes haematuria in PKD?
Rupture of cysts
Cysts of which organ may be found alongside PKD?
What happens to
a) kidney function
b) liver function (if affected)
a) eGFR decreases
b) Liver function generally preserved
ADPKD has a lot of ___ manifestations.
liver, brain (stroke), cardiac (valve disease), GI (diverticulitis, hernia...)
Which imaging method is used to view the kidneys in ADPKD?
How long are the kidneys normally?
10 - 12 cm
Any more than this e.g in ADPKD is abnormal
If an USS for cysts is inconclusive, what scan would you do?
What is the percentage chance of your child inheriting ADPKD?
As with all autosomal dominant disease
How is ADPKD treated?
Control symptoms: hypertension, dehydration, ?proteinuria
Renal replacement therapy
What experimental drug is used to reduce cyst volume and progression?
What are the criteria for using it?
eGFR < 60, renal volume > 700mls
What are complications of ADPKD which need to be treated as they arise?
When is dialysis indicated?
GFR < 15
What is the rare type of polycystic kidney disease, commonly found in children?
Autosomal recessive PKD
Which chromosome mutates in ARPKD?
What part of the kidneys is affected by ARPKD?
vs renal tubules in ADPKD
What slowly declines in ARPKD?
So generally fatal
What syndrome presents with protein/haematuria, hearing loss and eye problems?
What is the mode of inheritance of Alport syndrome?
What protein is abnormal in Alport syndrome?
Type IV collagen
don't confuse with goodpasture's
What are the
symptoms of Alport syndrome?
a) Haematuria, then proteinuria
b) Sensorineural HL, eye problems