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1
Q

What are the genes in APKD?

A

AD. Polycystin 1 on Chromosome 16, and Polycystin 2 and Chromosome 4. 4 is less severe and presents later. Some patients with a positive family history do not have an identified mutation. A small percent develop a sporadic mutation that is then passed on in an AD pattern.

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2
Q

Complications of APKD?

A

Renal:
1. Pain
2. Haematuria
3. Stones
4. CKD
5. Infection

Extra-renal
1. HTN
2. Berry aneurysms
3. Liver/pancreatic cysts
4. MV prolapse, AR

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3
Q

APKD - indications for nephrectomy?

A
  1. Recurrent infection
  2. Uncontrolled bleeding
  3. Suspected RCC
  4. Uncontrolled pain
  5. Extension into transplanted kidney
  6. To make room for a transplanted kidney
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4
Q

What are the causes of renal osteodystrophy in CKD?

A
  1. Low Vitamin D leading to osteomalacia
  2. High phosphate
  3. Low calcium due to both above
  4. Secondary hyperparathyroidism (leading to bone cysts - hyperparathyroid bone disease)
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5
Q

What are the principles of managing CKD?

A
  1. Underlying cause
  2. HTN (ACEi)
  3. CV risk (QRISK)
  4. Volume overload
  5. Hyperkalemia
  6. Hyperphosphatemia (diet, non-calcium phosphate binders like Serelamer)
  7. Renal osteodystrophy (Address hyperphos, Vit D, consider parathyroidectomy)
  8. Anaemia (replete iron, then give EPO)
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6
Q

What are the indications for RRT?

A
  1. Refer when GFR <30
  2. Uraemic complications (pericarditis, encephalopathy, bleeding)
  3. Refractory acidosis
  4. Refractory fluid overload
  5. Refractory hyperkalaemia
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7
Q

What are the complications of haemodialysis?

A
  1. Dialysis washout - hypotension, fatigue, cramps, chest pain, headaches
  2. Infection
  3. Bleeding (heparin as anticoagulant)
  4. Amyloidosis
  5. Decreased bone turnover
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8
Q

What are the complications of peritoneal dialysis

A
  1. Peritonitis
  2. Peritoneal sclerosis
  3. DM due to systemic absorption of glucose
  4. Local complications: hernias, fluid leakage, catheter exit site infection,
  5. Decreased bone turnover
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9
Q

How do you clinically assess adequacy of RRT?

A
  1. Fluid status
  2. Asterixis
  3. Pericardial rub
  4. Tachypnoea
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10
Q

Name some causes of renal disease

A
  1. Diabetes
  2. Hypertension
  3. Glomerulonephritis
  4. Vasculitis
  5. PKD
  6. Alports
  7. Tuberous Sclerosis
  8. Lipodystrophy
  9. SLE

In PACES
1. Diabetes
2. HTN
3. Chronic GN
4. ADPKD

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11
Q

What are some of the complications of immunosuppression in renal transplant?

A
  1. Infection
  2. Skin lesions - BCC, SCC, melanoma
  3. Cyclosporin (calcineurin inhibitor) - hirsuitism, gum hypertrophy, hypertension
  4. Steroids - purpura, diabetes, HTN, cushingoid features
  5. Tacrolimus (calcineurin inhibitor) - DM, tremor (especially in toxicity)
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12
Q

Common causes of CLD

A

Cirrhosis
Carcinoma
Congestive heart failure
Infectious (HBV, HCV)

Immune (PBC, PSC, AIH)

Infiltrative (amyloid, myeloproliferative)

Other
Hereditary haemochromatosis, AIAT, Wilson’s

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13
Q

Tell me about alpha 1 anti-trypsin disease

A
  1. Variable phenotype based on amount of residual AIAT produced
  2. Lack of protease inhibitor A1AT
    PI MM - normal
    PI MZ - carrier
    PI SS - 50% normal AIAT
    PI ZZ - 10% normal AIAT (usually the ones that manifest disease)
    Lungs: lower lobe pan-acinar emphysema
    Liver: cirrhosis and HCC in adults; cholestasis in children
    Ix: AIAT levels, spirometry
    Rx: AIAT infusion, supportive, volume reduction surgery
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14
Q

How do you grade liver cirrhosis?

A

Child Pugh
based on
1. Excretion (bilirubin and ammonia)
2. Synthesis (albumin, PT)
3. Portal (portal hypertension and ascites)

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15
Q

Pathophys of ascites in cirrhosis?

A

Disruption of portal blood flow within liver that leads to splanchnic vasoDILATION
Self-propogating as this reduces renal blood flow that actives the RAS system. Net result is sodium and water retention that propagates the ascites and oedema

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16
Q

Hepatomegaly

A
  1. Liver problem
  2. Cancer
  3. Benign lesions
  4. Heart - CHF
  5. Infection
  6. Infiltration - amyloid etc.
  7. Vascular - Budd-Chiari, Sickle
  8. Cysts
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17
Q

Causes of Splenomegaly

A

In F iltration
-Malignant (AML, lymphoma, myelofibrosis)
-Benign (amyloid, sarcoid, gylcogen storage, Gaucher’s (Ashkenazi Jew), thyrotoxicosis)

F unctional
-Increased removal of blood cells (thalasemia, spherocytes, sickle cell)
-Immune hyperplasia (viral, malaria, bacterial, fungal, parasitic, infectious mononucleosis, Brucellosis, endocarditis)
-Disordered immune regulation (RA, Felty, SLE, sarcoid)

F low
-Cirrhosis
-Vascular problem - hepatic/portal vein obstruction

F*cking MASSIVE
-CML
-Myelofibrosis
-Gaucher’s storage
-Malaria
-Kala Azar

Ix
-FBC with film
-CT Neck TAP
-Bone marrow with trephine
-LN biopsy
-Sickle screen, x3 thick/thin films

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18
Q

What autoantibodies would you test for in CLD?

A

ANA
AMA (PBC)
Anti-smooth muscle (AIH)
Anti-LKM (AIH)

Also check Immunoglobulins

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19
Q

How does PBC present?

A

Early: fatigue, pruritis, hyperpigmentation, xanthelasma, anaemia, coagulopathy (malabsorption), RUQ pain

Late: Fullminant liver disease

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20
Q

What are the autoantibodies in PBC?

A

anti-mitochondiral antibodies
Raised IgM

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21
Q

What is the pathophsiology of PBC?

A

Autoimmune destruction of inter-lobar bile ducts leading to progressive cholestasis and eventually cirrhosis

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22
Q

Is PBC associated with other auto-immune conditions?

A
  1. Sjogren’s
  2. RA
  3. Systemic Sclerosis
  4. Thyroid disease
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23
Q

Rx for PBC?

A
  1. Ursodeoxycholic acid (improves prognosis)
  2. Liver transplant
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24
Q

Structuring presentation for CLD

A
  1. Peripheral signs of CLD and alcohol use (parotid swelling)
  2. Signs of portal hypertension
  3. Signs of decompensation (if present)
  4. Nutritional status
  5. Points to underlying cause
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25
Initial investigations for CLD?
1. Full history (including travel, drug use, alcohol, and family history) 2. Bloods (UE FBC Liver profile, coagulation) 3. Autoimmune screen (Anti-LKM, AntiSM, Anti-mitochondrial, immunoglobulins) 4. Iron studies, caeruloplasmin, alpha 1 antitripsin levels 5. Liver USS +/- biopsy 6. AFP 7. Cross sectional imaging if indicated
26
What are the causes of jaundice?
Pre-hepatic Haemolysis Gilbert's Criggler Najar (UDP glucoronyl transferase) Hepatocellular AIH CLD Viral hepatitis Drugs Hepatic ducts PBC, PSC, drugs, obstetric cholestasis Extra-hepatic Biliary structures, gallstones, pancreatic mass
27
Define acute liver failure
Multi-system disorder in which severe impairment of liver function with hepatic encephalopathy occurs within 8 weeks of onset of symptoms and no underlying chronic liver disease.
28
Management of varices and variceal bleeding
1. Stabilise airway 2. Correct clotting 2. Transfuse 3. Terlipressin 4. Antibiotics 5. Urgent OGD for banding 6. Sengstaken-Blakemore if uncontrollable haemorrhage 7. TIPPS if above fail
29
What is the Rockall score?
Estimates mortality and re-bleed risk Modified Rockall - pre-endoscopy (age, comorbidities, haemodynamics) Rockall (Complete) 1. Age 2. Haemodyanimics 3. Co-morbidities 4. Diagnosis 5. Signs of recent/ongoing haemorrhage
30
Management of ascites
Identify cause Na and fluid restrict Diuretics Therapeutic paracentesis with volume expansion TIPS Consider liver transplant (40% 1 year mortality)
31
What scoring criteria is used to assess liver transplant eligibility?
UKELD (UK model of end-stage liver disease) score Predicts 1 year mortality >=49 = survival advantage from transplant UKELD score is based on: 1. INR 2. Cr 3. Bilirubin 4. Sodium
32
Drugs causing jaundice
Hepatocellular Valproate Isoniazid Rifampicin Amiodarone Methotrexate Cholestatic Co-amox Carbamazapine Contraceptive pill (OCP)
33
What are the causes of acute liver failure?
1. Paracetamol 2. Alcohol 3. Viral (Hep A,B,CMV) 4. Drugs (valproate, isoniazid, nitrofurantoin, co-amox, sulfonamides) 5. Metabolic: Wilson's, Reye's 6. Vascular: Ischaemic hepatitis, Budd-Chiari 7. Pregnancy - Fatty liver of pregnancy, HELLP
34
Variceal prophylaxis?
Propanolol Endoscopic variceal band ligation TIPPS
35
Indications for transplant in paracetamol OD
1. Arterial pH <7.30 24-hours after ingestion 2. PT >100s (INR 6.5) 3. Creat >300 umol/L 4. Grade III, IV encephalopathy
36
What are the indications for liver transplant?
1. Acute Fulminant Liver failure including paracetamol and alcohol overdose 2. HCC 3. Cirrhosis (ALD, NASH, AI liver disease, Haemachromotosis, Wilson's, A1AT) 4. Other: Diuretic resistant ascites, chronic hep enceph, refractory pruritis, hepato-pulmonary syndrome, polycystic liver disease, recurrent cholangitis)
37
What are the contra-indications for liver transplant?
Absolute 1. Untreated HIV 2. Other disease with >50% mortality at 5 years 3. Irreversible lung disease 4. Ongoing alcohol/drug misuse 5. Current or previous other cancer (HCC eligible) Relative 1. Smoking 2. Poor social support 3. Extensive prev abdominal surgery 4. BMI >40 5. Poor clinical attendance
38
How will you structure your presentation of a renal transplant case?
1. The diagnosis of ESRF 2. What is the fluid status 3. Is there a renal transplant 4. What is the mode of renal replacement therapy 5. What are previous modes of renal replacement? 6. Are there side effects of immunospresion 7. Are there side effects of ESRF (IHD, Anaemia, hypercalcaemia/parathyroidectomy) 8. Are there any clues to cause (DM, PKD, HTN, Chronic GN)
39
Commonest causes for ESRF
1. HTN 2. DM 3. GN
40
When would you start discussing transplant?
As they approach end stage renal disease, but before they require dialysis eGFR 30
41
How do you define ESRF?
eGFR <15ml/min
42
Barriers to renal transplant?
1. Availability of donor 2. Malignancy 3. Ongoing infection/vasculitis 4. Severe obesity
43
Define the SAAG
Serum to Ascites albumin gradient. g / dL. >1.1g/L = high SAAG <1.1g/L = low SAAG
44
Diagnosis of Hereditary Spherocytosis?
Can be clinical EMA binding test and the cryohaemolysis test to confirm
45
Structure for presenting a liver transplant case
1. Identify the scar 2. Adequacy of function: signs of CLD, PHTN (caput medussae, splenomegaly), hepatic decomp (asterixis, jaundice) 3. Complications of immunosuppression (skin lesions - check sun exposed areas carefully, steroid side effects, tremor (Tac), gum hypertrophy (ciclosporin) 4. Any evidence of underlying aetiology / differential
46
How do you prognosticate acute alcoholic hepatitis?
Madrey Discriminant Function for alcoholic hepatitis 1. PT 2. Total biliruin Glasgow Alcoholic Hepatitis Score 1. Age 2. Bil 3. Urea 4. INR 5. WCC
47
What are the indications for super-urgent transplant in paracetamol poisoning?
1. pH <7.25 24 hours after poisoning 2. PT > 100 or INR >6.5 3. SCr >300 4. Grade 3-4 encephalopathy
48
Surgical scars for liver transplant?
Bilateral roof-top with sternal incision (Mercedez Benz) or inverted J scar (Makuuchi)
49
What are the common complications following liver transplant?
Surgical 1. Strictures 2. Leaks Immunosuppression 1. Rejection 2. Infection 3. Malignancies 4. Metabolic Syndrome ALD/CLD 1. Due to calcineurin inhibitors 2. DM 3. HTN Underlying 1. Viral Hepatitis 2. Budd-Chiari 3. PBC
50
Surgical scar for renal transplant?
Rutherford Morrison (backwards Nike)
51
What causes a high SAAG?
1. Portal Hypertension 2. CHF 3. Budd Chiari 4. Nephrotic Syndrome 5. Meig's Syndrome
52
What causes a low SAAG?
1. TB 2. Malignancy 3. Pancreatitis 4. SBP
53
What is Meig Syndrome?
Benign ovarian tumour presents with high SAAG ascites and transudative (low protein) pleural effusion. A similar presentation can be seen in many metastatic malignancies
54
What are the causes of ascites?
1. Liver Cirrhosis 2. Vascular: Budd Chiari, CCF, constrictive pericarditis 3. Low albumin: nephrotic syndrome 4. Peritoneal disease: Meig syndrome, infectious, malignancy 5. Misc: Pancreatic leak, chylous leak, peritoneal dialysis, advanced hypothyroidism
55
How is Hereditary haemochromatosis inherited?
Autosomal recessive
56
What is the gene affected in Hereditary Haemochromatosis?
HFE gene on chromosome 6
57
How does Hereditary Haemachromatosis usually present?
1. Screening 2. Raised ferritin 3. Arthralgia, lethargy, sexual dysfunction 4. DM, cardiomyopathy, bronze pigmentation of skin
58
How do you diagnose HH?
1. Raised ferritin (200 mcg/L in females, 300 mcg/L in males) 2. Raised transferrin saturation (>40% in females, and 50% in males) 3. Positive HFE gene defect (note there is variable penetrance)
59
How do you assess for HH complications?
1. Regular HbA1c 2. 6-monthly liver USS and AFP 3. Baseline echo 200x risk of HCC if cirrhotic Reduced life expectancy if cirrhotic, norma life expectancy without cirrhosis + effective treatment
60
How do you treat HH?
1. Weekly venesection until ferritin is 20-30 mcg/L and TSAT <50% followed by maintenance venesection. 2. Treat complications
61
Which organs are typically affected in HH?
Liver, heart, pancreas, anterior pituitary
62
What are the typical joint features in HH?
1. Chondrocalcinosis 2. 2+3 MCP arthropathy 3. Squared off bone ends 4. Hook like osteophytes
63
How is Hereditary Spherocyteosis inherited?
AD - Chromosome 8 5 different genes coding for the structure of red blood cells
64
Ix for Hereditary Spherocytosis?
1. FBC 2. Haemolysis screen (LDH, split bilirubin, haptoglobin, reticulocyte level) 3. Coombs (negative) 4. EMA binding/osmotic fragility test
65
Rx for Hereditary Spherocytosis?
Folic acid (to keep up with RBC turnover) Bood transfusions Splenectomy (will need vaccination for encapsulated organisms particularly meningococcal, pneumococcal, and influenza, and prophylactic antibiotics) Cholecystectomy
66
What causes haemolysis in Hereditary Spherocytosis?
Spherocyte shaped RBCs undergo haemolysis in spleen - splenectomy virtually eliminates haemolysis
67
How do you diagnose coeliac disease?
Anti-TTG. If equivocal - OGD + D2 biopsy looking for total or sub-total villous atrophy
68
How do you manage coeliac disease?
Wheat, rye, barley all have gluten. Need dietitian consult
69
What are the causes of gynaecomastia?
Liver disease Testicular failure Ectopic tumour secretion Hyperthyroidism Haemodialysis Drugs: spironolactone, digoxin, GnRH analogues, finasteride
70
What potential reasons might a patient have a surgical scar in both iliac fossa?
SPK transplant One failed renal transplant
71
Indications for SPK transplant?
Cure both patients diabetes and ESRF with potential that patient would be free of haemodialysis and insulin therapy, and vascular complications of diabetes (however unclear benefit in diabetic retinopathy where the damage may be irreversible)
72
What is the drainage of a transplanted pancreas?
Into the small bowel (used to be into the bladder but caused UTIs)
73
How do you assess for encephalopathy?
1. Astrexisis and contructional apraxia. Grade I = altered behaviour, constructional apraxia Grade II = drowsiness Grade III = marked confusion Grade IV = coma
74
What is your differential for gynaecomastia?
Gynaecomastia is due to imbalance in androgen:oestrogen ratio. It can be physiological 1. Liver problem (reduced androgens) 2. HypERthyroidism 3. Syndromic (Klienfelters) 4. HCG secreting testicular cancers 5. Drugs (spironolactone, digoxin, finasteride, cimetidine)
75
TIPS
Transvenous intrahepatic porto-systemic shunt that diverts blood from portal to systemic system to relieve refractory portal hypertension. 10% will subsequently become encephalopathic.
76
What is hepatorenal/hepatopulmonary syndrome?
Due to splanchnic vasodilation = underfilling of kidneys Type 1 Rapidly progressive and very poor prognosis Type 2 Slowly progressive but poor prognosis Rx: Terlipressin, albumin, TIPS, transplant
77
What are the causes of chronic pancreatitis?
Alcohol Gallstones Hypercalcaemia Hypertriglyceridaemia Smoking ERCP Pancreatitic divisium Pancreatic cancer Idiopathic Genetic (PRSS1, CFTR, SPNK1)
78
What are the complications of chronic pancreatitis?
Pancreatogenic diabetes Pancreatic ductal strictures BIliary obstruction Duodenal obstruction Pseudocysts Pancreatic malignancy
79
What are the histological features of crohns vs. UC?
Crohns: Transmural Skip lesions Mucosal ulcers Fissures Strictures UC Superficial mucosal and submucosal start at anus and spread proximally Crypt abscesses
80
What are the extra-intestinal manifestations of Crohn's disease?
1. Skin: pyoderma, erythema nodosum 2. Joints - arthritis 3. Eyes - episcleritis/uveitis 4. Gallstones 5. PSC (more common in UC)
81
What are the key differences in the treatment of Crohn's and UC?
5-ASA are less effective in Crohn's 5-ASA used as maintenance in UC (oral + topical); aza/merca can be added if >2 flares Azathioprine/Mercaptopurine (need to check TPMT levels first) are used as maintenance in Crohn's
82
What immunosuppressive agents are used for renal transplants?
1. Tacrolimus and Ciclosporin (calcineurin inhibitor - blocks IL2) 2. MMF (blocks purine synthesis) 3. Steroids (suppress immune response)
83
What side effects do you know of with immunosuppression?
All - infection due to myelosupression Tac - tremor, impaired glucose tolerance, HTN, lymphoma, skin cancer Cic - less potent than Tac, lymphoma, skin cancer MMF - rarely associated with GI bleeding and lung fibrosis
84
Causes of palmar erythema?
Cirrhosis Hyperthyroidism RA Polycythaemia Pregnancy
85
What vaccinations need to be provided in patients with a splenectomy, and when?
Ideally 2 weeks before if planned. Need to vaccinate against encapsulated bacteria including Pneumococcus, Meningococcus, HiB. Then lifelong prophylactic penicillin
86
What are common indications for a splenectomy?
Haematological: haemolytic anaemia, thalasemia, haem malignancy, myeloproliferative disorders, ITP Trauma Infectious complications (hydatid, malaria) Congestive disorders Metabolic storage disorders
87
What is a specific sign of ALCOHOLIC liver disease?
Parotid swelling Dupuytren's contracture (can be deforming of tendons and lead to fixed flexion/extension of digits!)
88
End of the bed signs of CLD?
Cachecia and Loss of tricep bulk Palmar erythema Dupuytrens Asterixis Spider naevi Gynaecomastia Loss of central chest hair

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