Inherited Renal Disease Flashcards
What is the most common cause of inherited kidney disease?
Autosomal dominant polycystic kidney disease
What two disease loci of ADPKD have been identified?
PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease, affecting 1 in 1,000 Caucasians
true
What % of cases are ADPKD T1 & T2 respectively?
T1 - 85%
T2 - 15%
Which ADPKD presents with renal failure earlier?
T1
Which chromosomes are affected in ADPKD T1 & T2 respectively?
T1 - 16
T2 - 4
In ADPKD what is the screening investigation for relatives?
abdominal ultrasound
WHat is the US diagnostic criteria in ADPKD?
(in patients with positive family history)
two cysts, unilateral or bilateral, if aged < 30 years
two cysts in both kidneys if aged 30-59 years
four cysts in both kidneys if aged > 60 years
Outline the features of ADPKD?
hypertension recurrent UTIs abdominal pain renal stones haematuria chronic kidney disease
What is the commonest extra-renal manifestation in ADPKD? what % of renal manifestation is this
Liver cysts (70%) May cause hepatomengaly?
What is the SECOND? commonest extra-renal manifestation in ADPKD? what % of renal manifestation is this? What can this result in?
berry aneurysms (8%): rupture can cause subarachnoid haemorrhage
How can ADPKD affect the cardiovascular system?
cardiovascular system: mitral valve prolapse, mitral/tricuspid incompetence, aortic root dilation, aortic dissection
ADPKD can manifest in cysts in other organs?
pancreas, spleen; very rarely: thyroid, oesophagus, ovary
For select patients, what is the mx for ADPKD? and how does this work?
tolvaptan - vasopressin receptor 2 antagonist
slow the progression of cyst development and renal insufficiency
may be an option.
What is the criteria for using Tolvaptan?
they have chronic kidney disease stage 2 or 3 at the start of treatment
there is evidence of rapidly progressing disease and
the company provides it with the discount agreed in the patient access scheme.
What is ARPKD?
Autosomal recessive polycystic kidney disease (ARPKD) is much less common than autosomal dominant disease (ADPKD).
What causes ARPKD?
due to a defect in a gene located on chromosome 6 which encodes fibrocystin, a protein important for normal renal tubule development.
How is diagnosis made for ARPKD?
prenatal ultrasound or in early infancy with abdominal masses and renal failure.
How does ARPKD typically present/progress?
Newborns may also have features consistent with Potter’s syndrome secondary to oligohydramnios.
End-stage renal failure develops in childhood.
Patients also typically have liver involvement, for example portal and interlobular fibrosis.
What will renal biopsy show in ARPKD?
Renal biopsy typically shows multiple cylindrical lesions at right angles to the cortical surface.
