Gastro theory (gastro, renal) Flashcards
Peutz-Jeghers syndrome
-Autosomal dominant
-STK11 (LKB1) tumour suppressor gene
-dark freckles mucocutaneous (lips, mouth), oral mucosa and peripheries
-polyps GI c/o bleeding, intestinal obstruction, hronic pain
-high risk malignancy (breast, colorectal, pancreatic, stomach, ovarian, lung and small bowel)
DDx: hereditary hemorrhagic telangiectasia.
-epistaxis childhood
-red spots lips, tongue, fingertips
-FHx: Autosomal dominant. ENG, ACVRL1, MADH4 genes.
-AV malformations (pulmonary, cerebral)
Reversible causes of hepatic encephalopathy
Alcohol
Drugs
GI haemorrhage
Infection
Constipation
Indications for liver transplant
Acute
-paracetamol poisoning
-drug induced liver failure e.g. isoniazid, phenytoin, sodium valproate, MTX
-acute hepatitis
-EBV, CMV
Chronic
-alcoholic liver disease
-autoimmune hepatitis
-PBC
-PSC
-chronic viral hepatitis
-wilson’s disease
-budd-chiari syndrome
-hepatic malignancy
Stages of hepatic encephalopathy
1 sleep-wake cycle reversal
2 confusion
3 decreased level of consciousness, rousable
4 stupor, intubation
Amyloidosis
-extracellular deposition of abnormal proteins
-amyloid L (AL) and amyloid A (AA)
AL: abnormal light chain production ?myeloma
-cardiomyopathy, heart failure
-renal failure
-peripheral neuropathy
-malabsorption
-clotting function
-dx: bx, serum amyloid P (SAP) scan
-tx: myeloma and tx complications.
AA: abnormal deposition of serum amyloid A (SAA) protein, acute phase protein.
-secondary to inflammatory disorders (RA) and infection.
-liver
-spleen
-kdiney
-dx: bx
-mx underlying disorder
Crohns v Ulcerative colitis
Crohns:
-distribution: patchy “skip” lesions
-depth: transmural
-area: whole GI tract, terminal ileum and anus
-smoking: higher risk
-fistulae and stenosis: common
-Mx: conventional, then infliximab and adalimumab for severe active dx.
UC:
-distribution: continuous
-depth: superficial
-area: large bowel, rectum
-smoking: lower risk
-fistulae and stenosis: rare
-Mx: steroids, mercaptoprine or AZA. Mod-severe: infliximab and golimumab.
Consider vedolizumab for both.
Extra-intestinal manifestations of IBD
-Skin: erythema nodosum, pyoderma gangrenosum, aphthous ulceration
-Joints: seronegative arthritides (large-joint arthritis, sacroiliitis)
-Eye: uveitis, episcleritis, scleritis, conjunctivitis
-Hepatobiliary: PSC (more likely in UC), cholangiocarcinoma
-Renal: oxalate stones
Screening prior to biologics
Hx and exam (TB features)
Hepatitis serology
HIV test
CXR
T-spot test (quantiferon test if pt not on steroids)
Renal stones
-calcium oxalate
-hydroxyapatite
-uric acid
-struvite
-cystine
calcium oxalate: underlying metabolic disorder
Hydroxyapatite: no metabolic abnormality
Uric acid: idiopathic hyperuricaemia or hyperuricosuria
Struvite: renal infection
Cystine: renal tubular defect
Von Hippel-Lindau syndrome
Autosomal dominant
VHL gene (tumour suppressor gene)
Haemangioma
Angiomata retina (retinal haemorrhage, visual loss), brain, spinal cord, liver, kidney, pancreas
Cerebellar haemangioblastoma (lateral lobes)
Phaeochromocytoma
RCC
Endolymphatic sac tumours (inner ear, hearing loss, tinnitus, balance problems)
Annual screen: eye, kidney, urinary peptides for phaeo, intermittent brain imaging.
Mx: surgical removal, cryoablation or laser, external beam radiotherapy.
Renal transplant notes.
Investigation
-bloods: renal function, FBC, bone scan, LFT, CRP (infection), blood culture, virology (BK virus and CMV PCR), immunosuppression levels (toxicity)
-urine: dipstick (haematuria, proteinuria, leucocytes, nitrates), urine mcs, urine quantification for proteinruia, virology for BK virus
-US (doppler vessels) ?obstruction, renal perfusion, renal artery stenosis, renal vein thrombosis
-transplant biopsy: r/o rejection ?other cause
Signs of transplant failure
1. declining renal function
2. proteinuria
3. tenderness over graft
4. fluid overload
5. interstitial fibrosis, tubular atrophy or vascular changes on biopsy
Management: calcineurin inhibitor + antiproliferative agent + steroids
CNI:
-tacrolimus: tremor, alopecia, diabetes, HTN, nephrotoxicity, renal failure, blood disorders
-ciclosporin: gingival hypertrophy, hirsutism / hypertrichosis, hyperlipidemia (AND as for tacrolimus).
Antiproliferative:
-Mycophenolate mofetil: N/V/D, leucopenia, lymphopenia, anaemia, thrombocytopenia, foetal toxicity, infection, malignancy (skin), PTLD
-Azathioprine: hypersensitivity reactions, dose related bone marrow suppression, liver impairment, infection, pancreatitis
-Prednisolone: thin skin, easy bruising, muscle wasting/weakness, diabetes, HTN, osteoporosis, pancreatitis, infections, glaucoma, cataracts, heart failure
-Rapamycin inhibitors (mTOR): sirolimus, evelorimus. HTN, impaired healing, VTE, ILD, proteinuria, hyperlipidemia, reversible male infertility.
Alport syndrome
-genetics
-manifestations
-management
Genetics:
Type IV collagen defect
X-linked (M > F), AD and AR
Manifestations:
Kidneys: microscopic haematuria, proteinuria
Ears: sensorineural hearing loss
Eyes: anterior lenticonus (progressive visual loss)
Management:
-ACE inhibitors or ARBs (delay onset ESKD)
-Hearing aids
PBC v PSC
Primary biliary cirrhosis
Primary sclerosing cholangitis
PBC = small bile ducts
. autoimmune, AMA (anti-mitochrondrial ab)
. urso
PSC = med - large bile ducts
. assoc UC
. ANA/ASMA
. urso not that great
. endoscopic stricture, bile acid sequestrants.
CKD staging (D)
- eGFR notes
- eGFR >90
- eGFR reduction >60
- eGFR >30
- eGFR >15
- eGFR <15 (kidney failure)
eGFR notes:
- Average measure of stable creatinine over days, not for AKI.
- Elderly w/out proteinuria + eGFR >45 fine. eGFR decreases with age.
- Black x 1.2.
- Not accurate in pregnancy.
- Over-estimates if low muscle mass (or limb amputation)
IDEAL study, eGFR 7-10 to commence dialysis. AV fistula for HD need 3/12 post-op to use (eGFR 15-20).
CKD presentation + complications.
Presentation-
- nocturia
- lethargy
- loss of appetite
- fluid retention
- pruritis
Complications-
Pericarditis, serositis, encephalopathy, GI bleeding, uraemic nephropathy.
