Abdominal cases Flashcards
Consultation - what are the symptoms of polycystic kidney disease?
Present with complications: polyuria, loin pain, hypertension, bilateral kidney enlargement, gross haematuria, UTI/pyelonephritis, renal stones.
What examination features would you expect to see in PKD?
Bilateral kidney enlargement
Palpable hepatomegaly and splenomegaly if also cystic
Given the findings of bilateral kidney enlargement and palpable hepatosplenomegaly, what is your preferred diagnosis and differentials?
Autosomal dominant polycystic kidney disease
DDx: acquired simple cysts of kidney, tuberous sclerosis, autosomal recessive polycystic kidney disease, medullary sponge kidney.
What is autosomal polycystic kidney disease?
Most common inherited cause of serious renal disease inherited in an autosomal dominant fashion with mutations to the PKD gene. This leads to problems with polycystins affecting the kidneys and can also impact the liver, brain, blood vessels, and pancreas.
How would you investigate for autosomal dominant polycystic kidney disease?
Screening can take place using ultrasound with genetic counselling for individuals with affected family members.
Other investigations would include: urinalysis and MC+S; basic bloods including FBC (can have high Hb), U+Es for renal profile, and bone profile; importantly ultrasound to detect cysts for diagnosis (can alternatively use CT or MRI); genetic testing if imaging results non conclusive; MRA if family history of aneurysms.
How would you manage a patient with autosomal dominant polycystic kidney disease?
MDT approach with information and support given to the patient and family members. Advice re avoiding contact sports. Lifestyle measures to minimise cardiovascular risk, importantly including managing hypertension.
Tolvaptan (vasopressin receptor antagonist) can slow cyst formation and deterioration of renal function.
Treat UTIs promptly.
Once progresses to end-stage kidney disease - dialysis or transplantation may be required.
What are the complications of autosomal dominant polycystic kidney disease?
Most importantly, end stage renal disease.
Aneurysms, including intracranial.
Cardiovascular risks including hypertension.
Cysts in other organs such as the liver.
What is the prognosis of autosomal dominant polycystic kidney disease?
50% will be in end-stage kidney disease requiring renal replacement therapy by the age of 60 in PKD1 or 75 in PKD2.
Consultation - what are the symptoms of end-stage renal failure?
Uraemia symptoms - gastritis, hypothermia, fits, encephalopathy, pericarditis.
Fluid retention and pulmonary oedema.
Hyperkalaemia.
Hypernatraemia.
Metabolic acidosis.
What examination features would you expect to see in a patient with a renal transplant?
Signs of transplant: iliac fossa scar with fullness below, previous RRT with AV fistula/central line/peritoneal dialysis scars
Signs of anti-rejection medications: tremor (tacrolimus), cushingoid/bruising (steroids), skin excisions (immunosuppression), gum hypertrophy (ciclosporin)
Signs of underlying aetiology: fingertip CBG monitoring (DM), flank masses (PKD), butterfly rash (SLE), hearing aid (Alport syndrome), collapsed nasal bridge (granulomatosis with polyangiitis), sternotomy (renovascular disease)
Signs of failure: active AV fistula, fluid retention, anaemia
Given the findings of iliac fossa scar with fullness below and a non-functioning AV fistula, what is your preferred diagnosis and causes of this?
Renal transplant due to end stage chronic kidney disease.
The commonest causes are diabetes mellitus, polycystic kidney disease, hypertension, autoimmune glomerulonephritis.
What are the contraindications for renal transplant?
Cancer
Active infection
Uncontrolled ischaemic heart disease
Active viral hepatitis
How would you investigate a patient with a renal transplant?
Urinalysis and MC+S
Bloods - U+Es, LFTs, FBC, CRP, bone
Trough level of ciclosporin or tacrolimus
Ultrasound with vascular doppler if increased creatinine
How would you manage a patient with a new renal transplant?
MDT approach with support from transplant team with regular follow up
Anti-rejection medications e.g. tacrolimus
Vaccinations, avoiding all live vaccines
Managing cardiovascular risk factors including hypertension, statins, diabetes
What are the complications of renal transplant?
Graft rejection - hyperacute (within minutes), accelerated (within a few days), acute cellular (within weeks), chronic.
Postop problems e.g. infection, DVT.
Opportunistic infections e.g. CMV.
Malignancies e.g. skin cancers.
Recurrence of original disease in the transplant.
What is the prognosis of renal transplants?
Good 10 year survival 70-90% (better in live donor transplants).
Consultation - what are the symptoms of Crohn’s disease?
Diarrhoea - can be bloody, abdominal pain, weight loss. Systemic symptoms - malaise, anorexia, fever. Extra-intestinal symptoms - mouth, skin, eyes, joints, anal fissure/perianal abscess.
What examination features would you expect to see in Crohn’s disease?
General inspection - signs of weight loss, fluid depletion, anaemia. Arthritis, erythema nodosum/pyoderma gangrenosum.
Hands - clubbing
Face - mouth ulcers, conjunctivitis/episcleritis/iritis
Abdominal tenderness or distension, palpable masses.
Given the findings of tender abdomen, mouth ulcers, and erythema nodosum what is your preferred diagnosis and differentials?
Crohn’s disease.
DDx: infective gastroenteritis, ulcerative colitis, coeliac disease, irritable bowel syndrome, bowel cancer, ischaemic colitis, diverticulitis.
What is Crohn’s disease?
Crhonic relapsing inflammatory bowel disease. Transmural granulomatous inflammation that can affect any part of the GI tract. Skip lesions with unaffected bowel between areas of active disease.
How would you investigate for Crohn’s disease?
The diagnosis is confirmed through clinical evaluation and a combination of endoscopic, histological, radiological, and biochemical investigations.
Bloods - FBC, CRP, U+Es, LFTs.
Stool - C+S, faecal calprotectin.
Colonoscopy - with biopsies from terminal ileum and affected areas.
Perianal disease - pelvic MRI.
How would you manage a patient with Crohn’s disease?
MDT approach with referral to local gastro team and IBD nurses. Smoking cessation.
Hospital admission if severe pain and tenderness, severe diarrhoea >8/day +- bleeding, obstruction, fever/systemically unwell.
Medications in a stepwise approach with inducing remission then maintaining it.
Steroids to induce remission, enteral nutrition to support.
Azathioprine or mercaptopurine after assessing TPMT activity.
Methotrexate.
Infliximab and adalimumab (TNF-a blockers).
Surgery for strictures, fistulas, or disease limited to distal ileum.
What are the complications of Crohn’s disease?
Bowel - strictures causing obstruction, fistulae, perforation.
Cancer.
Osteoporosis from steroids.
Delayed growth and puberty.
What is the prognosis of Crohn’s disease?
More than 50% require surgery within 10 years of diagnosis.
30% never need immunosuppression or surgery.
Consultation - what are the symptoms of ulcerative colitis?
Bloody diarrhoea.
Colicky abdominal pain, urgency, tenesmus.
Systemic - malaise, fever, weight loss.
Extra-intestinal - joint, cutaneous, eye manifestations.
What examination features would you expect to see in ulcerative colitis?
Unwell - pale, febrile, dehydrated, tachycardic.
Abdominal tenderness, distension, masses.
Extra-intestinal - erythema nodosum, aphtous ulcers, episcleritis, arthropathy, ankylosing spondylitis, primary sclerosing cholangitis.
Given the findings of abdominal tenderness, erythema nodosum, episcleritis, and ankylosing spondylitis what is your preferred diagnosis and differentials?
Ulcerative colitis.
DDx: Crohn’s disease, infective colitis, irritable bowel syndrome, ischaemic colitis, colorectal cancer, diverticulitis.
What is ulcerative colitis?
Idiopathic chronic inflammatory disease of the colon that is relapsing and remitting.
