Inherited renal disorders Flashcards
Which mutation in ADPKD occurs in 85% of cases?
PKD gene 1 (located on chromosome 16)
Which mutation in ADPKD occurs in 15% of cases?
PKD2 (located on chromosome 4)
In which ADPKD mutations to patients develop end stage kidney disease earlier?
PKD1
How big are the kidneys in ADPKD?
20-25cm
Clinical features of ADPKD
Reduced urine concentrating ability Chronic pain (stretching of capsule) Hypertension Haematuria Cyst infection Renal failure
What are the extra renal features of ADPKD?
Hepatic cysts Intra cranial aneurysm Cardiac disease Diverticular disease Hernias
When do liver cysts tend to present in ADPKD?
10 yars after renal cysts
What problems can be caused by heaptic cysts in ADPKD?
SOB
Pain
Ankle swelling
Which cardiac problems aare associated with ADPKD?
Mitral/aortic valve prolapse
Valvular disease
How is ADPKD diagnosed?
USS (CT/MRI when unclear o USS)
When does ADPKD tend to present in children?
Early onset can be seen in uteri or first year of life
Management of ADPKD
Hypertension control
Hydratioon Proteinuria reduction
What new treatment is being developed to reduce cyst volume & progression?/
Tolvaptan
What is ASPKD heavily associated with?
Hepatic fibrosis
Which gene is responsible for ARPKD?
PKDh1 (chromosome 6)
Histological findings of ARPKD?
Cyst seen appearing from the collecting duct system
Clinical presentation of ARPKD
Kidneys always palpable
Hypertension
Recurrent UTI
Slow decline in GFR
Investigation for ARPKD
USS/CT/MRI
Prognosis of ARPKD
High mortality
How is Alports syndrome passed on?
X linked inheritance
What is Alport’s syndrome?
Disorder of Type IV collagen matrix
Clinical renal presentation of Alport’s syndrome?
Haematuria
roteinuria
What extra renal presentation can Alport’s present with?
Sensorineural deafness
Ocular defects
Treatment of Alport’s
No specific treatment
Standard aggressive treatment of BP, proteinuria
Dialysis/transplantation
What is Anderson Fabrys disease
Inborn error of glycosphingoilipid metabolism
What is there a deficiency of in Anderson Fabrys?
a-galactosidae A
Clinical features of Anderson Fabrys
Renal failure Angiokeratomas Cardiomyopathy Valvular disease Neuro (stroke) Psychiatric
How is Anderson-Fabrys diagnosed?
Plasma/leukocyte a-GAL activity
Renal/skin biopsy
Treatment of Anderson Fabrys?
Enzyme replacement (Fabryzyme)
What is medullary cycstic kidney?
Rare autosomal dominant inherited kidney disease with morphologically abnormal renal tubules leading to fibrosis
Where are cysts normally found in medullary cystic kidney?
Corticomedullary junction or medulla
What age does medullary kidney disease usually present?
28 y/o
How is medullary kidney disease diagnosed?
Ct scan (+ family history)
Treatment of medullary cystic kidneys
Transplant
What is medullary sponge kidney
Sproadic dilation of collecting ducts
How is medullary sponge kidney diagnosed?
Secretion urography to demarcate calculi
