Abdo Paces Flashcards
Causes of enlarged kidneys
ADPKD
Recessive form of PKD
Von Hippel Lindau
Tuberous Sclerosis
Hydronephrosis
Renal cell carcinoma (5%)
Genetics of PKD
Autosomal dominant:
PKD1: chromosome 16 in 80%- mean age to ESKD = 54
PKD2: chromosome 4 in 15% - mean age to ESKD = 74
Autosomal recessive:
Chromosome 6 - ESKD in early childhood
Clinical presentation on PKD
Abdominal mass or pain
Hypertension
UTI
Renal calculus
Haematuria
Intracranial bleed
Diagnostic criteria for ADPKD
In a patient known to be at 50% risk because of FHx, dx is suggested by:
- 2 cysts, either unilateral or bilateral at <30 yrs
- 2 cysts in each kidney in patients aged 30-59yrs
- 4 cysts in each kidney in patients >60yrs
- dx supported by hepatic or pancreatic cysts
In sporadic cases:
- bilateral renal enlargement and cysts, or the presence of multiple bilateral renal and hepatic cysts
- no manifestations suggesting an alternative renal cystic disease
Management of PKD
- management of cardiovascular risk factors
-BP control and RAAS blockade - tolvaptan (ADH receptor antagonist) limits cyst development
- may require nephrectomy to remove problematic cysts and reduce mass effects
- renal transplant and dialysis
Extra renal manifestations of PKD
- hypertension
- liver cysts (70%)
- pancreatic cysts (10%)
- berry aneurysms (5%)
- diverticular disease
- mitral valve prolapse
- aortic incompetence
- hepatic fibrosis
Pathophysiology of PBC
Autoimmune condition
Progressive inflammation and destruction of small intrahepatic ducts.
Antimitochondrial antibodies (AMA) is hallmark feature
Strongly associated with RA, sjorgens, CREST
Presentation of PBC
Incidental finding of raised ALP
Pruritus
Cholestatic jaundice
Diarrhoea
Lethargy
Xanthelasmata
Skin pigmentation
Clubbing
Hepatosplenomegaly
GI bleed
Osteoporosis
Diagnosis of PBC
AMA antibodies present in 95% of cases
Raised ALP
Raised IgM
May require liver biopsy for confirmation
Management of PBC
Cholestyramine for pruritis
Ursodeoxycholic acid
Obeyicholic acid either as mono therapy or combination with urso if not tolerated or response (reduces circulating bile acid)
Liver transplant
Complications of PBC
Hepatic cancer
Cirrhosis
Liver failure
Osteoporosis
Vitamin deficiency
Causes of hepatomegaly
Cirrhosis
Carcinoma
Congestive cardiac failure
Hepatitis B or C
PBC, PSC, AIH
Amyloid
Myeloproliferative disorder
Causes of cirrhosis
Alcohol
NAFLD
Hepatitis C and B
Autoimmune hepatitis
PBC
PSC
Wilson’s
Haemachromatosis
a1 antitripsin disease
HHT
Medications
Liver screen bloods
Autoimmune antibodies (ANA, AMA, SMA, LKM)
Immunoglobulins
Hepatitis b and c serology
Ferritin
Caeruloplasmin
a1 antitrypsin
AFP
Presenting a chronic liver disease patient
- Peripheral stigmata of liver disease
- Hepatomegaly
- Evidence of portal hypertension
- Evidence of decompensation
- Evidence of cause of liver disease
Classification of cirrhosis
Bilirubin, albumin, INR, ascites, encephalopathy
A= 5-6
B= 7-9
C= 10-15
Causes of palmer erythema
Cirrhosis
Hyperthyroidism
RA
Pregnancy
Polycythaemia
Causes of gynaecomastia
Puberty, old age
Kleinfelters syndrome
Cirrhosis
Drugs - spironolactone or digoxin
Testicular tumour/orchidectomy
Hyper/hypothyroidism
Addisons
Autoantibodies in PSC
ANA
anti- smooth muscle may be positive
Autoantibodies in autoimmune hepatitis
Anti smooth muscle
Anti LKM1
ANA
Causes of chronic renal failure
Diabetic nephropathy (34%)
Hypertension (29%)
Glomerulonephritis (14%)
PKD (14%)
Chronic pyelonephritis (10%)
Obstructive/reflux nephropathy
Advantages of transplant over continued dialysis
Improved quality of life
Increase patient survival rate
Cost effective in the long term
Renal diseases where there are a high risk of reoccurrence in transplanted kidney
Focal segmental glomerular sclerosis
Amyloidosiss
IgA nephropathy
HUS
Technical considerations for renal transplant
Atheromatous iliac vessels
Bladder dysfunction
Bleeding or infection on PKD cysts
Large and bulky kidneys
Uncontrolled hypertension
Renal calculi
Persistent anti- glomerular antibodies