Hereditary Kidney Disease Flashcards
1
Q
Most frequent occurring life threatening hereditary disease
A
Autosomal Dominant Polycystic Kidney Disease (ADKPD)
2
Q
85% of ADPKD
A
PKD1 (chromosome 16)
3
Q
15% of ADPKD
A
PKD2 (chromosome 4)
4
Q
why is family screening important?
A
May be clinically silent for many years
5
Q
Renal manifestations of ADPKD:
A
Renal enlargement with cysts, abdominal pain ± haematuria (haemorrhage into a cyst), cyst infection, renal calculi, BP increase, progressive renal failure
6
Q
Extrarenal manifestations of ADKPD:
A
Hepatic cysts (v common), Intracranial aneurysms (4-8%), Mitral/aortic valve prolapse, diverticular disease, hernias.
7
Q
Diagnosis of ADKPD:
A
- US for presence of multiple bilateral cysts + renal enlargement
- If unclear > CT/MRI
- Genetic screening (specialist genetic screening for PKD2 available, PKD1 difficult since there are so many mutations)
- Those with Subarachnoid Haemorrhage secondary to intracranial aneurysms may have MR-angiography done to them and first-degree relatives
8
Q
onset of ADPKD in children:
A
in utero or 1st year
9
Q
Management of ADPKD:
A
- Control Hypertension
- Hydrate
- Reduce proteinuria
- Cyst haemorrhage + cyst infection (Tolvaptan - reduces cyst volume and progression)
- Renal failure - dialysis or transplantation
10
Q
What medication reduces cyst volume and progression?
A
Tolvaptan
11
Q
What is ARPKD
A
Autosomal Recessive Polycystic Kidney Disease
12
Q
ARPKD mostly affects…
A
Young children (+ hepatic lesions) 24% mortality rate in 1st year, 80% survival beyond 1 year.
13
Q
Gene affected in ARPKD
A
PKHD1 (chromosome 6)
14
Q
Clinical presentation of ARPKD:
A
Palpable kidneys
HT + recurrent UTIs
Slow decline in GFR
15
Q
Medullary Cystic Kidney:
A
- Autosomal Dominant (RARE)
- Morphologically abnormal renal tubules leading to fibrosis
- Diagnosis: family history, CT scan (presents @ 28 years)
- Renal transplantation
