Inherited Renal Disorders Flashcards
what are the 2 types of polycystic kidney disease
autosomal dominant (common)
autosomalrecessive
what us autosomal dominant polycystic kidney disease
most frequent life threatening hereditary disease causing massive cyst enlargement in the kidneys
what mutations cause ADPKD
PKD1 gene - most common
PKD2 gene
which ADPKD mutation causes end stage renal failure at an earlier stage
PKD1
what are the clinical features of ADPKD
Reduced urine concentration ability
Chronic pain
Hypertension
Haematuria (cyst rupture, cystitis, stones)
Cyst infection
Renal failure
what is the most common extra-renal manifestation of ADPKD
Hepatic cysts
present 10 years after renal cysts
liver function tends to be preserved but results in:
- SOB
- Pain
- Ankle swelling
what are some other common extra-renal manifestation of ADPKD
Intra-cranial aneurysms
Cardiac disease
Diverticular disease
Hernias
how do you diagnose ADPKD
Radiology
- US - shows multiple bilateral cysts
- Renal enlargement
- CT/MRI when unclear on USS
Genetic
- linkage analysis
- mutation analysis
how do you differentiate ADPKD from ARPKD in children
USS suggestion of Congenital Hepatic Fibrosis suggests recessive disease
when can ADPKD present in children
in uteri or first year of life (early onset)
what percentage risk is there of an individual with ADPKD passing it on to their child
50%
management for ADPKD
Hypertension (rigorous control)
Hydration
Proteinuria reduction
Tolvaptan - reduces cyst volume and progression
what is autosomal recessive polycystic kidney disease
disease appearing in young children with an association with HEPATIC LESIONS
mutation in PKDH1 gene
where are histological cysts seen appearing from in ARPKD
The collecting duct system
what is the clinical presentation of ARPKD
Hypertension
palpable kidney
recurrent UTI
Slow decline in GFR - less than 1/3 reach dialysis
prognosis of ARPKD
Infants who survive the neonatal period have a mortality rate of 9%-24% the the first year of life
children who survive the first year have an 80% probably of survival beyond 15 years
what is Alpert’s syndrome
an x-linked inhibitive disorder of type IV collagen matrix
mutation in the COL4A5 gene
how does Alpert’s present
Haematuria
Proteinuria seen later but confers bad prognosis
Extra renal
-sensorineural deafness
-ocular defects - anterior lenticonus
-leiomyomatosis of oesophagus/genitalia (rare)
how do you diagnose alports
suspect if haematuia + hearing loss
renal biopsy
-variable thickness GBM is a characteristic feature
Treatment for Alports
Standard aggressive treatment of BP and proteinuria
dialysis/transplantation
what is Anderson Fabrys disease
Inborn error of glycosphingolipid metabolism
(deficiency of a-galactosidaseA)
x linked disease of lysosomal storage
v rare
Clinical features of Anderson fabry’s disease
Renal failure Cutaneous -angiokeratomas Cardiac -cardiomyopathy, valvular disease neurological - stroke, acroparesthesia psychiatric
how do you diagnose Anderson Fabrys disease
Plasma/leukocye a-GAL activity
renal biopsy
skin biopsy
treatment for Anderson Fabrys disease
enzyme replacement (fabryzyme)
management of complications
what is Medullary Cystic Kidney
Rare inherited cystic disease (autosomal dominant inheritance)
abnormal renal tubules leading to fibrosis
characteristics of Medullary cystic disease
Affected kidneys are normal/small
cysts in the corticomedullary junction or medulla
cortex and medulla both strange
irregularly distributed cysts of variable size
presents at average age of 28
how do you diagnose medullary cystic kidney
Diagnosis - family history, CT scan
treatment for medullary cystic kidney
renal transplantation
what is a medullary sponge kidney
sporadic inherited disease that causes dilation of collecting ducts
in severe cases the medulla appear like a sponge
the cysts have calculi in them
how do you diagnose medullary sponge kidney
by excretion urography 0 to demarcate calculi
