Abdominal Clinical Examination Flashcards

Question

GSD1 Von Gierke's - Inheritance - Pathology - Signs - Sequlae - Tx

Answer 1

Autosomal recessive Reduced glucose 6 phosphatase activity Signs In 1st 6 mo: Low blood sugar (chronic hypoglycemia), due to impairment of glycogen breakdown (glycogenolysis) causing insufficient fasting blood glucose (leads to lactic acidosis on fasting and hyperlipidaemia) O/E: Short & Doll like face Asymptomatic hepatomegaly (deposition of glycogen and fat), large kidneys Plt dysfunction, delayed puberty Risk: renal calculi and hepatic adenoma +- Neutropaenia Tx: Continuous feeds If neutropaenia: Filgrastim

Answer 2

Faltering growth and reduced muscle bulk Splenomegaly - low plt, hb and wcc Caput medusae Venous hum above the umbilicus Haemorrhoids Ascites Cirrhosis Portal vein obstruction - can be congenital defect/sepsis CHF Hepatic vein outflow obstruction (Budd Chiari)

Answer 3

Auto Rec Large hard liver with good liver function 75% have polycystic kidneys Assoc with ciliopathies that affect the kidneys, called hepatorenal fibrocystic diseases (FCD), include polycystic kidney disease (PKD), nephronophthisis (NPHP) chronic tubulointerstitial disease. Typically hepatomegaly, portal hypertension and fiber-like hepatic connective tissue (hepatic fibrosis).

Answer 4

Glycogen or storage disorders RS HF Less examinable: Infection: Hepatitis A B; EBV Neoplasm: Primary liver tumours. Secondary liver tumours -lymphoma, leukaemia, neuroblastoma. Esp LARGE: leukaemia Vascular: Hepatic Vein Thrombosis Inflammatory: AI hepatitis, alpha 1 antitrypsin deficicency Trauma: Endocrine: Degenerative: Esp LARGE: Congestive cardiac failure Metabolic: Esp LARGE = Storage disorder - CF, Malnutrition, TPN; Gaucher's, Niemann Pick's, GSD Wilson's. Drugs: Congenital: Congenital hepatic fibrosis

Answer 5

Portal hypertension (if no liver disease or hepatomegaly - portal vein obstruction is likely diagnosis). If large liver but no cirrhosis - likely congenital hepatic fibrosis) Infection incl Glandular fever Hereditary spherocytosis Sickle Cell Disease ITP Myeloproliferative disease Less examinable: Infection: Septicaemia, Mononucleosis, Malaria Neoplasm: Leukaemia, Hodgson's Vascular: Hereditary Spherocytosis, SCA, Thalassaemia Inflammatory: JIA, SLE Trauma: Endocrine Degenerative: Portal hypertension, Cirrhosis, Heart failure Metabolic: Gaucher's Drugs: Congenital: Hyperplasia of reticuloendothelial system Excessive stimulations by antigens Excessive destruction of blood cells Neoplasia Disorders of splenic flow - portal HTN Infiltration of the spleen

Answer 6

Portal Hypertension Possible secondary to pre-hepatic portal vein obstruction

Answer 7

Infection: EBV Chronic: Cystic fibrosis -> portal HTN Haem: Thalasaemia Portal HTN Storage: MPS -- Gaucher's Congenital: Hepatic fibrosis Infiltrative: Lymphoma/Leukaemia

Answer 8

Faltering growth and reduced muscle bulk Splenomegaly - low plt, hb and wcc Caput medusae Venous hum above the umbilicus Haemorrhoids Ascites Prehepatic: Portal vein obstruction - can be congenital defect/sepsis Intrahepatic Neoplastic Infection: Schistosmoiasis, hepatitis Congenital: CHF, Biliary atresia Metabolic: A1 antitrypsin deficiency Cirrhosis Hepatic congestion Hepatic vein outflow obstruction (Budd Chiari) RHF Constrictive pericardiits

Answer 9

Congenital: - Biliary: Biliary atresia (+- Kasai -> liver disease); Choledochal cysts; CHF; CF; Schlerosing cholangitis - Genetic: alpha 1 AT deficicency; Wilson; GSD Infection: Hep B & C; CMV Vascular: Budd-Chiari and heart failure Inflammatory: Autoimmune liver disease Metabolic: Gaucher's Drugs: Alcohol Tx: protein and essential fatty acid, trace elements and vitamins Ascites: restrict salt +- diuretics Emergency: - Alimentary bleeding - crossmatch. Variceal ligation, portosystemic shunt, sclerotherapy -Bacterial peritonitis - antibiotic - Hepatic encephalopathy - ammonia accumulation, reduced protein intake, antibiotics, lactulose

Answer 10

Extrahepatic Biliary atresia NN presentation of cholestasis Portoenterostomy (before 3 mo) Post op - high risk cholecystitis and IV abx Liver transplant

Answer 11

Autosomal dominant Liver signs: Jaundice, pruritus, pale stools (acholia), hepatomegaly, splenomegaly & xanthomas Reduced fat absorption: FTT "Butterfly vertebrae" Facies: broad, prominent forehead, deep-set eyes, and a small pointed chin Dx: Liver biopsy: too few bile ducts (bile duct paucity) or the complete absence of bile ducts (biliary atresia). Genetics Tx: supportive - liver treatments/transplants Improve bile excretion from the liver, reduce pain caused by the disease, and help improve nutritional deficiencies

Answer 12

Auto rec Cholestasis in infancy Cirrhosis in childhood Shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, and fatigue Increased risk - hepatocellular carcinoma (TRIVIA: alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.)

Answer 13

Indications: End stage disease - death in 18 months Unacceptable quality of life Growth or neurodevelopmental impairment secondary to disease Fulminant liver failure: <2 years or INR >4 Life threatening complications of liver disease (bleeding varices, gross encephalopathy, severe ascites) Rejection up to 50% Sepsis high cause of mortality Biliary leak in 20% 90% 2 year survival. 80% 5 year survival

Answer 14

Red flags: Very young Well localised and far from umbilicus Vomiting - esp bilious Unexplained fever Change in bowel habit - exp diarrhoea/blood Nocturnal waking w pain Weight loss/ Poor growth Fam hx of IBD or Coeliac

Answer 15

FBC, inflammatory marker, LFT, coeliac, stool culture, Urine MCS +- USS Symptom diary - w dietary/social triggers If reassuring - functional abdominal pain - (Theory: abnormal bowel reactivity to physiological and psychologically stressful stimuli) Recurrent Abdominal Pain = abdominal pain >2 in 3 months. 1) Functional dyspepsia - related to food 2) IBS - loose stools and constipation 3) Abdominal migraine - pallor, nauseas +- vomiting w fam hx of migraine 4) Functional abdo pain - Simple analgesia - Consider CAMHS or pain team input - Healthy eating and plenty of fluids - Regular exercise

Answer 16

Cardiac Congenital heart disease with cyanosis Infective endocarditis AV malformations Endocrine Acromegaly Hyperthryoidism Hyperparthryoidism Gastrointestinal Achalasia Celiac disease Cirrhosis Crohn’s disease Tropical sprue Ulcerative colitis Infectious disease Tuberculosis Pulmonary Cystic fibrosis Interstitial lung disease – particularly bronchiectesis, but this is a large differential diagnosis itself. Abscess and empyema Lung cancer – primary and metastatic Sarcoidosis Other Hypertrophic osteopathy – primary and secondary Malignancy Palmoplantar keratoderma Pregnancy Pseudoclubbing

Answer 17

Polycystic renal disease most likely is ADPKD PKD1, 2 or 3. Grossly dilated nephrons -> compression of surrounding parenchyma -> ischaemia S: Abdo pain - stretching of cysts, haemorrhage or rupture Haematuria and proteinuria Rec UTI HTN Renal failure Mx USS screening of 1st degree relatives Supportive mx: ACE inhibitor for hypertension

Answer 18

Less common 1:40000. PKHD1 on Chr 6 Cysts in collecting ducts of nephrons Can present as NN w renal masses and respiratory distress Congenital hepatic fibrosis in all pt +- Portal HTN Systemic hypertension

Answer 19

Beckwith-Wiedermann Hemihypertrophy Aniridia DRASH syndrome

Answer 20

1:10000 before 15y * Painless, palpable abdominal mass * Appetite loss * Abdominal pain * Fever * N&V * Haematuria in 20% * HTN * Varicoele Metastasis usually to the lung - hematogenous metastases (lung, liver, bone, or brain) 5-year survival approximately 90%

Answer 21

Nephrosis * Oedema * Pallor * Tachypnoea and SOB * Pleural effusions and ascites * Peripheral oedema * HTN Assess circulating volume with BP and HR; JVP; Core-peripheries temp difference; CRT Complications * HTN * ARF or Chronic RF * Infection * Thrombosis * Malnutrition * Hyperlipidaemia Mx HAS for severe symptomatic oedema after discussion with renal team Steroid therapy Prednisolone 60mg/m2 for 4/52, then halve for 4/52 Consider cyclophosphamide Referral for biopsy * Steroid resistant * <12 mo or >12y * Haematuria * HTN not 2ry to circulatory problems * Renal impairment * Low complement 75% Minimal change disease Others: Focal segmental glomerulosclerosis, mesangiocapillary glomerulonephritis, membranous nephropathy Signs of Steroid toxicity

Answer 22

Short, nutritonal impairment, pallor PD catheter or fistula

Answer 23

Persisting renal injury GFR < 90ml/min/1.73 m^2 for over 3 month S1: GFR >90 but eveidnce of bilateral injury S5: GFR< 15 Commonest diff: Congenital abnormalities of renal tract Renal cystic disease Nephrotic syndrome Glomerulonephritis Puberty is delayed - proportion of RRT Mx: * Prevent proteinuria with ACE inhibitors and monitor early morning P:C ratio, U&E and Creatinine * Control HTN - salt reduction, anti-hypertensives: ACE inhibitor * Intercurrent illness: maintain hydration, no nephrotoxics - re NSAIDS or using renal doses * If polyuric from a tubular defect = sodium and bicarb supplmeentation * If glomerular = retention of salt and water = lower intake *Dietician* * Prevention of bone disease: reduced phosphate, vitamin D supplements * Monitor growth: may need supplementation/gastrostomy. ?GH * Correct anaemia: EPO and iron supplements * Imms + influenza (live vaccines before transplant

Answer 24

Nephrectomy scars Kidney in iliac fossa - superficial and palpable Loin scars or laproscopic scars- post nephrectomy (risk of sepsis if ongoing reflux) Complications * SE immuosupression - infection risk * Rejection of transplanted kidney * Dehydration with intercurrent illness - risk of AKI, lower threshold for IV fluids and IV steroids * Obstruction: USS of kidney, renal pevis measurements pre and post micturation Management * Live vaccines contraindicated (nasal influenza, oral polio, MMR, varicella) * Prophylaxis with cotrimoxazole and valganciclovir post transplant * Varicella exposure - vaccinate pre-transplant. If non immune post transplant for varicella IG for contact and aciclovir for tx * Avoid nephrotoxics * Clinic rv of weight, BP, U&E, creatinine

Answer 25

CKD w PD BP and urine dip

Answer 26

Most likely ADPKD as bilateral and well DDx Hydronephrosis Cyst Multicystic dysplastic kidney Wilms' Neuroblastoma Unilateral renal agenesis - hypertrophy of other kidney Renal vein thrombosis Storage disorder Beckwith Wiedermann Sepsis

Answer 27

Beckwith Wiedemann (Exopthalos and Nephrectomy scars (Wilm's)

Answer 28

Transplanted kidney BP and urine dip

Answer 29

Nephrotic syndrome Urine dip for protein (early am P:C ratio >200) Hypoalbuminaemia in oedematous child If Abdo pain - peritonitis or splanchnic vasoconstriction due to intravascuar depletion. Assess volume and consider sepsis, then treat Urinary electrolytes helpful

Answer 30

Beckwith-Wiedermann Hemihypertrophy Aniridia DRASH syndrome