Polycystic kidney disease Flashcards
which type of polycystic kidney disease is more common ?
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease
which type of Autosomal dominant polycystic kidney disease (ADPKD) is more common
ADPKD type 1
which chromosome is associated with ADPKD type 1
Chromosome 16
which chromosome is associated with ADPKD type 2
chromsome 4
which type of ADPKD is associated with renal failure earlier
ADPKD type 1
Ultrasound diagnostic criteria (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
what are the ADPKD features ?
hypertension
flank pain
haematurea
palpable kidneys
renal stones
recurrent UTI
are there extra renal manifestation of ADPKD?
liver cyst - may cause hepatomegaly
(sometime cyst in pancreas / spleen )
Berry aneurism
mitral valve prolapse / mitral or tricuspid incompetence
aortic root dilation and direction
management of autosomal dominant polycyclic kidneys ?
Under circumstances select patients, tolvaptan (vasopressin receptor 2 antagonist)
NICE recommends tolvaptan in ADPKD in adults to slow the progression of cyst and renal insufficiency only if?
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.
Presents with renal failure earlier
ADPKD type 1
x
x
Autosomal recessive polycystic kidney disease (ARPKD) is much less common than autosomal dominant disease ?
yes
chromsome affecting ARPKD?
chromosome 6
how is diagnosis made in ARPKD?
Diagnosis may be made on prenatal ultrasound or in early infancy - with abdominal masses and renal failure
