9: Inherited renal disorders Flashcards
What is the most common mode of inheritance of polycystic kidney disease?
Autosomal dominant
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?
Kidney failure
What happens in PKD?
Epithelium of renal tubules forms enlarged cysts
Is ADPKD unilateral or bilateral?
Bilateral
In PKD, the kidneys (increase / decrease) in size.
kidneys enlarge
What can occur in the epithelium in ADPKD?
Neoplasia
What are the symptoms of ADPKD?
Chronic loin pain
Dilute urine (Loops buggered so can’t concentrate it)
Haematuria
Hypertension (SEN)
What causes haematuria in PKD?
Rupture of cysts
Inflammation
Renal calculi
Cysts of which organ may be found alongside PKD?
Liver
What happens to
a) kidney function
b) liver function (if affected)
in ADPKD?
a) eGFR decreases
b) Liver function generally preserved
ADPKD has a lot of ___ manifestations.
systemic
liver, brain (stroke), cardiac (valve disease), GI (diverticulitis, hernia…)
Which imaging method is used to view the kidneys in ADPKD?
Ultrasound
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?
MRI scan
What is the percentage chance of your child inheriting ADPKD?
50%
As with all autosomal dominant disease
How is ADPKD treated?
Control symptoms: hypertension, dehydration, ?proteinuria
Experimental drugs
Renal replacement therapy
What experimental drug is used to reduce cyst volume and progression?
What are the criteria for using it?
Tolvaptan
eGFR < 60, renal volume > 700mls
What are complications of ADPKD which need to be treated as they arise?
Haemorrhage
Infection
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?
Chromosome 6
What part of the kidneys is affected by ARPKD?
Collecting ducts
vs renal tubules in ADPKD
What slowly declines in ARPKD?
GFR
From birth
So generally fatal
What syndrome presents with protein/haematuria, hearing lossandeye problems?
Alport syndrome
What is the mode of inheritance of Alport syndrome?
X-linked
What protein is abnormal in Alport syndrome?
Type IV collagen
don’t confuse with goodpasture’s
What are the
a) renal
b) extra-renal
symptoms of Alport syndrome?
a) Haematuria, then proteinuria
b) Sensorineural HL, eye problems
How is Alport syndrome investigated?
Renal biopsy
for abnormal GBM (Type IV collagen)
How is Alport syndrome treated?
Control of proteinuria - antihypertensives, diabetes
Renal replacement therapy
What is a rare X-linked condition causing renal, liver and lung problems?
What type of disease is it?
Anderson Fabry’s disease
Metabolic disease
Which enzyme is defective in Anderson Fabry’s disease?
Alpha-galactosidase 1
How is Fabry’s disease treated?
Enzyme replacement (fabryzyme)
What is the difference between polycystic kidney disease and medullary cystic kidney disease?
MCKD - renal tubules FIBROSE so kidneys get SMALLER
PKD - cysts, kidneys get bigger
How do the kidneys change in size in
a) medullary cystic kidney disease
b) polycystic kidney disease?
a) Smaller
b) Bigger
How is medullary cystic kidney disease treated?
Kidney transplant
medullary sponge kidney
look over summary
