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CASE 59: BLOOD IN THE URINE

History

A 52-year-old businessman is referred to a nephrologist for investigation of microscopic haematuria. This was first detected 6 months ago at an insurance medical for a new job, and has since been confirmed on two occasions by his general practitioner (GP). Previous urinalyses have been normal. He has never had macroscopic haematuria, and has no urinary symptoms. He is otherwise in excellent health. There is no significant past medical history. He has no symptoms of visual problems or deafness. There is no family history of renal disease. He drinks 35 units of alcohol per week and smokes 30 cigarettes per day.

Examination

He is a fit looking well-nourished man. His pulse is 72/min, blood pressure 146/102 mmHg. Otherwise, examination of his cardiovascular, respiratory, abdominal and neurological systems is unremarkable. Funduscopy reveals arteriovenous nipping.

INVESTIGATIONS

Urinalysis: '' protein; '' blood; #100 red cells 24-h urinary protein: 1.2 g; normal !200 mg/24 h Electrocardiogram (ECG): left ventricular hypertrophy Renal ultrasound: two normal-sized kidneys

Questions

•What is the likely diagnosis?

•How do you interpret the creatinine value?

•What further investigations would you organize?

•What advice would you give this patient?

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ANSWER 59

Microscopic haematuria has many renal and urological causes, e.g. prostatic disease, stones, but the presence of significant proteinuria, hypertension and renal impairment suggest this man has some form of chronic glomerulonephritis. The high gamma-glutamyl transpeptidase level is compatible with liver disease related to a high alcohol intake. The recommended upper limit for men is 28 units per week.

!Commonest glomerular causes of microscopic haematuria

•Immunoglobulin A (IgA) nephropathy

•Thin basement membrane disease

•Alport’s syndrome (predominantly affects males)

IgA nephropathy is the commonest glomerulonephritis in developed countries, and is characterized by diffuse mesangial deposits of IgA. Patients often have episodes of macroscopic haematuria concurrent with upper respiratory tract infection. Most cases of IgA nephropathy are idiopathic, but this it is also commonly associated with Henoch–Schönlein purpura and alcoholic cirrhosis. This man has IgA nephropathy in association with alcoholic liver disease. About 20 per cent of patients with IgA nephropathy will develop end-stage renal failure after 20 years of follow-up.

Thin basement membrane disease is a familial disorder which presents with isolated microscopic haematuria, minimal proteinuria and normal renal function that does not deteriorate. Electron microscopy shows diffuse thinning of the glomerular basement membranes (the width is usually between 150 and 225 nm versus 300–400 nm in normal subjects). Alport’s syndrome is a progressive form of glomerular disease, associated with deafness and ocular abnormalities and is usually inherited as an X-linked dominant condition so that males are more seriously affected.

This patient should have a renal biopsy to reach a histological diagnosis. As the patient is over 50 years old he should have urine cytology/prostate-specific antigen/cystoscopy performed to exclude concurrent bladder and prostatic lesions. He needs a liver ultrasound, and liver biopsy should be considered.

The patient should be advised to abstain from alcohol, and needs his blood pressure controlling. He needs regular follow-up as he is at risk of progressing to dialysis and/or renal transplantation. The raised creatinine appears modest in terms of the actual figures, but as plasma/serum creatinine does not begin to rise until the glomerular filtration rate is reduced to 50 per cent of normal (irrespective of the patient’s age), the raised creatinine in this case indicates a serious loss of renal function to approximately 40 per cent of normal. There is no convincing evidence for immunosuppression retarding the progression into renal failure in most patients with IgA nephropathy.

KEY POINTS

•Patients with isolated haematuria aged !50 years should be initially referred to a nephrologist.

•Patients with isolated haematuria aged #50 years should be initially referred to a urologist for investigation, to exclude bladder or prostatic disease.

•Small elevations in serum/plasma creatinine indicate large loss in renal function.

•Liver damage from a high alcohol intake may occur with no obvious signs and symptoms.

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CASE 60: WEIGHT LOSS

History

A 67-year-old man attends his general practitioner’s (GP’s) surgery. He says that he has lost 10 kg in weight over the last 4 months. This has been associated with a decrease in appetite and an increasing problem with vomiting. The vomiting has been productive of food eaten many hours previously. During the last month he has noticed some weakness, particularly in his legs, climbing hills and stairs.

He is a smoker of 20 cigarettes per day and drinks around 10 units of alcohol each week. There is no relevant family history. His past medical history consists of hypertension which was treated for 2 years with beta-blockers. He stopped taking these 4 months ago.

Examination

He looks thin and unwell. His pulse is 82/min. His blood pressure is 148/86 mmHg. There are no abnormalities to find on examination of the cardiovascular and respiratory systems. There are no masses to feel in the abdomen and no tenderness, but a succussion splash is present.

INVESTIGATIONS

Questions

•What is the likely explanation for these findings?

•What is the most likely diagnosis?

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ANSWER 60

The clinical picture suggests obstruction to outflow from the stomach. This would be compatible with vomiting of residual food some time after eating and the succussion splash from the retained fluid and food in the stomach. The biochemical results fit with this diagnosis. There is a rise in urea but not creatinine, suggesting a degree of dehydration. Sodium, chloride and hydrogen ions are lost in the vomited stomach contents. Loss of hydrochloric acid produces a metabolic alkalosis. In compensation, hydrogen ions are retained by exchange for potassium in the kidney and across the cell membranes, so leading to hypokalaemia, and carbonic acid dissociates to hydrogen ions and bicarbonate. The hypokalaemia indicates a considerable loss of total body potassium, which is mostly in the skeletal muscle, and explains the patient’s recent weakness.

The most likely cause would be a carcinoma of the stomach involving the pyloric antrum and producing obstruction to outflow. A chronic gastric ulcer in this area could produce the same picture from associated scarring, and gastroscopy and biopsy would be necessary to be sure of the diagnosis.

Gastroscopy may be difficult because of retained food in the stomach. In this case, after this was washed out a tumour was visible at the pylorus causing almost complete obstruction of the outflow tract of the stomach. The next step would be a computed tomography (CT) scan of the abdomen to look for metastases in the liver and any suggestion of local spread of the tumour outside the stomach. If there is no evidence of extension or spread, or even to relieve obstruction, laparotomy and resection should be considered. Otherwise chemotherapy and surgical palliation are treatment options.

KEY POINTS

•Vomiting food eaten a long time previously suggests gastric outlet obstruction.

•Mild-to-moderate dehydration tends to increase urea more than creatinine.

•Prolonged vomiting causes a typical picture of hypochloraemic metabolic alkalosis.

•Carcinoma of the stomach can present without abdominal pain or anaemia.

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CASE 61: LOSS OF CONSCIOUSNESS

History

A 52-year-old man is brought to the emergency department by ambulance. His wife gives a history that, while standing at a bus stop, he fell to the ground and she was unable to rouse him. His breathing seemed to stop for about 20 s. He then developed jerking movements affecting his arms and legs lasting for about 2 min. She noticed that his face became blue and that he was incontinent of urine. He started to recover consciousness after a few minutes although he remains drowsy with a headache. The man has not complained of any symptoms prior to this episode. There is no significant past medical history. He is a taxi driver. He smokes 20 cigarettes per day and consumes about three pints of beer each night.

Examination

He looks a fit and well-nourished man. He is afebrile. There is some bleeding from his tongue. His pulse is 84/min and regular. His blood pressure is 136/84 mmHg. Examination of his heart, chest and abdomen is normal. There is no neck stiffness and there are no focal neurological signs. Funduscopy is normal. His Mini-mental test score is normal.

INVESTIGATIONS

Questions

•What are the differential diagnoses of this episode?

•How would you investigate and manage this patient?

•What implications does the diagnosis have for this man’s livelihood?

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ANSWER 61

This man has had an episode characterized by sudden onset loss of consciousness associated with the development of generalized convulsions. The principal differential diagnosis is between an epileptic fit and a syncopal (fainting) attack. Syncope is a sudden loss of consciousness due to temporary failure of the cerebral circulation. Syncope is distinguished from a seizure principally by the circumstances in which the event occurs. For example, syncope usually occurs while standing, under situations of severe stress or in association with an arrhythmia. Sometimes a convulsion and urinary incontinence occur. Thus, neither of these is specific for an epileptic attack. The key is to establish the presence or absence of prodromal symptoms. Syncopal episodes are usually preceded by symptoms of dizziness and light-headedness. Other important neurological syndromes to exclude are transient ischaemic attacks, migraine, narcolepsy and hysterical convulsions. Transient ischaemic attacks are characterized by focal neurological signs and no loss of consciousness unless the vertebrobasilar territory is affected. The onset of migraine is gradual, and consciousness is rarely lost. In narcolepsy, episodes of uncontrollable sleep may occur but convulsive movements are absent and the patient can be wakened.

In this man’s case the episode was witnessed by his wife who gave a clear history of a grand mal (tonic–clonic seizure). There may be warning symptoms such as fear, or an abnormal feeling referred to some part of the body – often the epigastrium – before consciousness is lost. The muscles become tonically contracted and the person will fall to the ground. The tongue may be bitten and there is usually urinary incontinence. Due to spasm of the respiratory muscles, breathing ceases and the subject becomes cyanosed. After this tonic phase, which can last up to a minute, the seizure passes into the clonic or convulsive phase. After the contractions end, the patient is stupurose which lightens through a stage of confusion to normal consciousness. There is usually a post-seizure headache and generalized muscular aches.

In adults, idiopathic epilepsy rarely begins after the age of 25 years. Blood tests should be performed to exclude metabolic causes such as uraemia, hyponatraemia, hypoglycaemia and hypocalcaemia. Blood alcohol levels and gamma-glutamyltransferase levels should also be measured as markers of alcohol abuse. A computed tomography (CT) scan of the brain is needed to exclude a structural cause such as a brain tumour or cerebrovascular event. This man should be referred to a neurologist for further investigation including an electroencephalogram (EEG). This is necessary as he will probably not be able to continue in his occupation as a taxi driver. Treatment with anticonvulsants for a single fit is also controversial.

KEY POINTS

•It is vital to get an eye-witness account of a transient neurological episode to make a diagnosis.

•New-onset epilepsy is rare in adults and should therefore be fully investigated to exclude an underlying cause.

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CASE 62: MEMORY LOSS

History

A 38-year-old man presents to a neurologist having been referred because of memory loss and difficulty with concentration. He has recently lost his job in a high-street bank because of his increasingly poor performance at work. His wife and friends have noticed the decline in his memory for recent events over the past 6 months. The patient is sleeping poorly and has developed involuntary jerking movements of his limbs especially at night. He appears to his wife to be very short-tempered and careless of his personal appearance. He is married with two children and neither smokes tobacco nor drinks alcohol. He is not taking any regular medication. Aged 15, he received 2 years’ treatment with growth hormone injections because of growth failure.

Examination

In the nervous system, muscle bulk, power, tone and reflexes are normal but there are occasional myoclonic jerks in his legs. The examination of cardiovascular, respiratory and abdominal systems is entirely normal. Funduscopy is normal. Mini-mental test scoring is grossly subnormal (4 out of 10).

!Mini-mental State questionnaire

•What is the name of this place?

•What is the address of this place?

•What is the date?

•What month is it?

•What year is it?

•How old are you?

•When is your birthday?

•What year were you born?

•Who is the Prime Minister?

•Who was the previous Prime Minister?

Questions

•What is the diagnosis?

•What are the major differential diagnoses of this condition?

•How would you investigate and manage this patient?

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