Clinical Biochemistry:Metabolic and Clinical Aspects

With Expert Consult access

3rd Edition - March 5, 2014
Authors: William J. Marshall, Márta Lapsley, Andrew Day, Ruth Ayling
Language: English
Paperback ISBN:
9 7 8 - 0 - 7 0 2 0 - 5 1 4 0 - 1
eBook ISBN:
9 7 8 - 0 - 7 0 2 0 - 5 7 1 8 - 2
eBook ISBN:
9 7 8 - 0 - 7 0 2 0 - 5 4 7 8 - 5

Now fully revised and updated, Clinical Biochemistry, third edition is essential reading for specialty trainees, particularly those preparing for postgraduate examinations. It… Read more

Clinical Biochemistry:Metabolic and Clinical Aspects

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Now fully revised and updated, Clinical Biochemistry, third edition is essential reading for specialty trainees, particularly those preparing for postgraduate examinations. It is also an invaluable current reference for all established practitioners, including both medical and scientist clinical biochemists.

Building on the success of previous editions, this leading textbook primarily focuses on clinical aspects of the subject, giving detailed coverage of all conditions where clinical biochemistry is used in diagnosis and management – including nutritional disorders, diabetes, inherited metabolic disease, metabolic bone disease, renal calculi and dyslipidaemias. The acquisition and interpretation of clinical biochemical data are also discussed in detail.

Cover image
Title page
Table of Contents
Copyright
Preface
Contributors
CHAPTER 1 Uses of biochemical data in clinical medicine
INTRODUCTION
SPECIFIC USES OF BIOCHEMICAL TESTS
CONCLUSION
Further reading
CHAPTER 2 Acquisition and interpretation of biochemical data
INTRODUCTION
THE TEST REQUEST
FACTORS AFFECTING TEST RESULTS
INTERPRETATION OF RESULTS
THE PREDICTIVE VALUE OF TESTS
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 3 Quality aspects of laboratory medicine
INTRODUCTION
WHAT IS QUALITY?
QUALITY STANDARDS
CLINICAL QUALITY INDICATORS
EVIDENCE-BASED CLINICAL BIOCHEMISTRY
POINT-OF-CARE TESTING
CONCLUSION
FURTHER READING
CHAPTER 4 Sodium, water and potassium
PHYSIOLOGY
DISORDERS OF SODIUM METABOLISM
DISORDERS OF WATER METABOLISM
DISORDERS OF POTASSIUM METABOLISM
CONCLUSION
Further reading
APPENDIX 4.1 FORMULAE
APPENDIX 4.2 DYNAMIC FUNCTION TESTS
CHAPTER 5 Hydrogen ion homoeostasis and tissue oxygenation and their disorders
INTRODUCTION
THE PHYSIOLOGICAL ROLE OF HYDROGEN IONS
HYDROGEN ION HOMOEOSTASIS
THE ASSESSMENT OF ACID–BASE STATUS
DISORDERS OF HYDROGEN ION HOMOEOSTASIS
TISSUE OXYGENATION
CONCLUSION
Further reading
CHAPTER 6 Calcium, phosphate and magnesium
CALCIUM METABOLISM
PHOSPHORUS METABOLISM
MAGNESIUM METABOLISM
CONCLUSION
Further reading
APPENDIX 6.1 CALCIUM ABSORPTION TEST
APPENDIX 6.2 ANALYSIS OF TUBULAR HANDLING OF CALCIUM
APPENDIX 6.3 CLASSIFICATION OF PSEUDOHYPOPARATHYROIDISM
APPENDIX 6.4 ESTIMATION OF TMP/GFR
APPENDIX 6.5 MAGNESIUM RETENTION TEST
APPENDIX 6.6 RENAL TUBULAR REABSORPTION OF MAGNESIUM
CHAPTER 7 The kidneys, renal function and kidney disease
ANATOMY
RENAL FUNCTION
RENAL DISEASE AND ITS PRESENTATION
THE ASSESSMENT OF RENAL FUNCTION
ACUTE KIDNEY INJURY (ACUTE RENAL FAILURE)
CHRONIC KIDNEY DISEASE
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 8 Proteinuria
INTRODUCTION
PROTEIN CONSERVATION BY THE KIDNEYS
NORMAL URINARY PROTEIN CONTENT
PROTEINURIA IN KIDNEY DISEASE
MICROALBUMINURIA AS A MARKER OF RISK
CLINICAL INVESTIGATION OF PROTEINURIA
ACKNOWLEDGEMENT
Further reading
CHAPTER 9 Renal tubular disorders and renal stone disease
INTRODUCTION
RENAL TUBULAR DISORDERS
RENAL CALCULI
CONCLUSION
ACKNOWLEDGEMENT
Further reading
APPENDIX 9.1 DIAGNOSIS OF RENAL TUBULAR ACIDOSIS
CHAPTER 10 Clinical biochemistry of nutrition
INTRODUCTION
NUTRITIONAL REQUIREMENTS
ASSESSMENT OF NUTRITIONAL STATUS
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 11 Nutritional disorders and their management
INTRODUCTION
MALNUTRITION
OBESITY
EATING DISORDERS
DIET IN THE AETIOLOGY OF DISEASE
THERAPEUTIC DIETS, DIETARY SUPPLEMENTS AND NUTRACEUTICALS
PROVISION OF NUTRITION SUPPORT
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 12 Clinical biochemistry of the gastrointestinal tract
INTRODUCTION
MOUTH AND OESOPHAGUS
STOMACH
PANCREAS
SMALL BOWEL BACTERIAL OVERGROWTH
MALDIGESTION AND MALABSORPTION
INTESTINAL PERMEABILITY
FAECAL TESTS OF INTESTINAL INFLAMMATION
THE ACUTE ABDOMEN
Further reading
CHAPTER 13 Assessment of hepatic function and investigation of jaundice
INTRODUCTION
ANATOMY OF THE LIVER
HEPATIC REGENERATION
PHYSIOLOGICAL FUNCTIONS
LIVER FUNCTION TESTS
USES OF LIVER FUNCTION TESTS
ABNORMAL LIVER FUNCTION TESTS IN ASYMPTOMATIC PATIENTS
NORMAL LIVER FUNCTION TESTS IN THE PRESENCE OF OVERT LIVER DISEASE
ROLE OF LIVER FUNCTION TESTS IN ASSESSING PROGNOSIS
CONCLUSION
Further reading
CHAPTER 14 Acute and chronic liver disease
CLASSIFICATION OF LIVER DISEASE
ACUTE HEPATITIS AND ITS SEQUELAE
ACUTE LIVER FAILURE
CHRONIC HEPATITIS
PRIMARY BILIARY CIRRHOSIS (PBC)
PRIMARY SCLEROSING CHOLANGITIS (PSC)
ALCOHOLIC LIVER DISEASE
THE CONCEPT OF CIRRHOSIS
DRUGS AND THE LIVER
NEOPLASTIC DISEASE OF THE LIVER AND BILIARY TRACT
PARENTERAL NUTRITION
BACTERIAL INFECTIONS
INHERITED METABOLIC DISORDERS INVOLVING THE LIVER
LIVER TRANSPLANTATION
CONCLUSION
Further reading
CHAPTER 15 Glucose metabolism and the pathophysiology of diabetes mellitus
PHYSIOLOGY AND PATHOPHYSIOLOGY OF GLUCOSE HOMOEOSTASIS
CLASSIFICATION AND DIAGNOSIS OF DIABETES MELLITUS
ENDOCRINE ASSOCIATIONS WITH DIABETES
DIABETES, NUTRITION AND GROWTH
MECHANISMS OF DIABETIC TISSUE DAMAGE
CONDITIONS ASSOCIATED WITH INADEQUATELY CONTROLLED DIABETES MELLITUS
BIOCHEMICAL MEASUREMENTS IN DIABETES MELLITUS
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 16 The clinical management of diabetes mellitus
INTRODUCTION
GENERAL ASPECTS OF MANAGEMENT
GLUCOSE-LOWERING THERAPY IN DIABETES
OBSTACLES TO ACHIEVING GLYCAEMIC CONTROL
CHRONIC COMPLICATIONS OF DIABETES
EMERGENCIES IN DIABETES
MANAGEMENT OF DIABETES IN THE HOSPITAL SETTING
PREGNANCY
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 17 Hypoglycaemia
GLUCOSE HOMOEOSTASIS IN THE FED AND THE POSTABSORPTIVE STATES
HYPOGLYCAEMIA
CLASSIFICATION OF HYPOGLYCAEMIC DISORDERS
PRACTICAL APPROACH TO THE INVESTIGATION OF HYPOGLYCAEMIA
EMERGENCY TREATMENT OF HYPOGLYCAEMIA
CAUSES OF HYPOGLYCAEMIA
CONCLUSION
Further reading
CHAPTER 18 Hypothalamic, pituitary and adrenal disorders
INTRODUCTION
CLINICAL ANATOMY OF THE PITUITARY AND HYPOTHALAMUS
PHYSIOLOGY OF HYPOTHALAMO– PITUITARY–END ORGAN AXES
CLINICAL ANATOMY AND PHYSIOLOGY OF THE ADRENALS
ASSESSMENT OF NORMAL PITUITARY FUNCTION
OTHER DIAGNOSTIC TECHNIQUES IN PITUITARY DISEASE
PITUITARY HYPERSECRETION STATES
HYPOTHALAMIC AND PITUITARY DEFICIENCY STATES
ADRENAL DISEASE
MONITORING PITUITARY AND ADRENAL REPLACEMENT THERAPY
CONCLUSION
Further reading
APPENDIX 18.1 TEST PROTOCOLS
CHAPTER 19 Thyroid dysfunction
INTRODUCTION
NORMAL THYROID PHYSIOLOGY
THE EVALUATION OF THYROID FUNCTION
HYPERTHYROIDISM
HYPOTHYROIDISM
THYROIDITIS
NEOPLASIA
SYNDROMES OF RESISTANCE TO THYROID HORMONES
SCREENING
ACKNOWLEDGEMENT
Further reading
CHAPTER 20 Metabolic response to stress
INTRODUCTION
THE RESPONSE TO STRESS
STRESS AND THE KIDNEYS
CYTOKINES
STRESS AND INFLAMMATION
SHOCK
CARE OF THE SHOCKED PATIENT
CONCLUSION
Further reading
CHAPTER 21 Disorders of puberty and sex development
INTRODUCTION
NORMAL SEX DEVELOPMENT
NORMAL PUBERTAL DEVELOPMENT
DISORDERS OF SEX DEVELOPMENT
DISORDERS OF PUBERTY
Further reading
CHAPTER 22 Reproductive function in the female
INTRODUCTION
PHYSIOLOGY
HORMONES REGULATING REPRODUCTIVE FUNCTION
REPRODUCTIVE STEROID HORMONES
OLIGO- AND AMENORRHOEA
INFERTILITY
HIRSUTISM AND VIRILISM
PREGNANCY
ORAL CONTRACEPTION AND HORMONE REPLACEMENT THERAPY
ACKNOWLEDGEMENT
Further reading
APPENDIX 22.1 ACTH STIMULATION TEST FOR THE DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA
References
CHAPTER 23 Reproductive function in the male
INTRODUCTION
THE TESTES
EVALUATION OF TESTICULAR FUNCTION
MALE HYPOGONADISM
GYNAECOMASTIA
IMPOTENCE
Further reading
APPENDIX 23.1 PROTOCOLS FOR ENDOCRINE INVESTIGATIONS
Reference
Reference
Reference
CHAPTER 24 Inherited metabolic disease
INTRODUCTION
CLINICAL PRESENTATION AND PATHOPHYSIOLOGY
NEWBORN SCREENING
INHERITANCE
DIAGNOSTIC STRATEGIES
PRENATAL DIAGNOSIS
MANAGEMENT
CONCLUSION
Further reading
CHAPTER 25 Paediatric clinical biochemistry
INTRODUCTION
POSTNATAL INVESTIGATION OF THE SMALL FOR GESTATIONAL AGE NEWBORN
RESPIRATORY DISORDERS
RENAL FUNCTION
CARBOHYDRATE METABOLISM
CALCIUM AND PHOSPHORUS METABOLISM
DISORDERS OF LIVER FUNCTION
Further reading
CHAPTER 26 Introduction to haematology and transfusion science
INTRODUCTION
GENERAL HAEMATOLOGY
MORPHOLOGY
HAEMOSTASIS
BLOOD TRANSFUSION
CONCLUSION
ACKNOWLEDGEMENTS
Further reading
CHAPTER 27 Biochemical aspects of anaemia
INTRODUCTION
THE FORMATION, STRUCTURE AND FUNCTION OF THE NORMAL RED CELL
ANAEMIA
ANAEMIAS ASSOCIATED WITH A REDUCTION IN RED CELL PRODUCTION
ANAEMIAS ASSOCIATED WITH INCREASED RED CELL LOSS
DIAGNOSIS OF HAEMOLYSIS
CONCLUSION
ACKNOWLEDGEMENTS
Further reading
CHAPTER 28 The porphyrias: inherited disorders of haem synthesis
INTRODUCTION AND OVERVIEW
PORPHYRIAS PRESENTING WITH ACUTE ATTACKS
THE CUTANEOUS PORPHYRIAS
SECONDARY DISORDERS OF PORPHYRIN METABOLISM
CONCLUSION
CHAPTER 29 The haemoglobinopathies
INTRODUCTION
THE THALASSAEMIAS
STRUCTURAL HAEMOGLOBIN VARIANTS
LABORATORY DIAGNOSIS OF HAEMOGLOBINOPATHIES
CONCLUSION
Further reading
CHAPTER 30 Immunology for clinical biochemists
THE IMMUNE SYSTEM
DISEASES OF THE IMMUNE SYSTEM
LYMPHOID MALIGNANCIES
INFECTION AND SEPSIS
TRANSPLANTATION
CONCLUSION
Further reading
APPENDIX 30.1 IMMUNOLOGICAL INVESTIGATIONS
CHAPTER 31 Metabolic bone disease
BONE BIOLOGY
OSTEOPOROSIS
OSTEOMALACIA
CHRONIC KIDNEY DISEASE – MINERAL AND BONE DISORDER
BONE DISEASE IN PRIMARY HYPERPARATHYROIDISM
PAGET DISEASE OF BONE
BONE TURNOVER AND BONE DISEASE IN CHILDREN
GENETIC BONE DISEASES
CONCLUSION
Further reading
APPENDIX 31.1 INDICATIONS FOR DIAGNOSTIC TRANSILIAC BONE BIOPSY
APPENDIX 31.2 PROTOCOL FOR DESFERRIOXAMINE TEST IN DIALYSIS PATIENTS
CHAPTER 32 Biochemistry of articular disorders
INTRODUCTION
THE ARTICULAR SYSTEM
DISORDERS OF THE ARTICULAR SYSTEM
ARTICULAR INVOLVEMENT IN ENDOCRINE AND METABOLIC DISEASES
LABORATORY TESTING IN ARTICULAR DISEASE
CONCLUSION
Further reading
CHAPTER 33 Muscle disease
INTRODUCTION
FUNCTIONAL ANATOMY AND PHYSIOLOGY OF MUSCLE
DISEASES OF MUSCLE AND THEIR INVESTIGATION
BIOCHEMICAL INVESTIGATION OF MUSCLE DISEASE
INVESTIGATION OF MUSCLE DISEASE
CONCLUSION
ACKNOWLEDGEMENTS
Further reading
APPENDIX 33.1 THE FOREARM EXERCISE TEST
CHAPTER 34 Investigation of cerebrospinal fluid
INTRODUCTION
CEREBROSPINAL FLUID PHYSIOLOGY
INVESTIGATIONS RELEVANT TO PHYSIOLOGY AND PATHOPHYSIOLOGY
BIOCHEMICAL INVESTIGATIONS IN CNS DISORDERS
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 35 Biochemical aspects of psychiatric disorders
INTRODUCTION: PSYCHIATRY AS A CLINICAL DISCIPLINE
THE CLASSIFICATION OF PSYCHIATRIC DISORDERS
THE AETIOLOGY OF PSYCHIATRIC DISORDERS
BIOCHEMICAL INVESTIGATIONS IN PSYCHIATRIC DISORDERS
PSYCHIATRIC MANIFESTATIONS OF ORGANIC DISEASE
ENDOCRINE AND METABOLIC MANIFESTATIONS OF PSYCHIATRIC DISEASE
METABOLIC COMPLICATIONS OF PSYCHOTROPIC DRUGS
FUTURE DEVELOPMENTS
CONCLUSION
Further reading
CHAPTER 36 Biochemical aspects of neurological disease
INTRODUCTION
ENCEPHALOPATHY
SPINAL CORD DISORDERS
PERIPHERAL NEUROPATHY
MOVEMENT DISORDERS
ATAXIA
INFLAMMATORY DISORDERS OF THE CENTRAL NERVOUS SYSTEM
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 37 Lipids and disorders of lipoprotein metabolism
INTRODUCTION
LIPIDS
LIPOPROTEINS
APOLIPOPROTEINS
CHOLESTEROL ABSORPTION
TRIGLYCERIDE DIGESTION
BILE ACID METABOLISM
LIPOPROTEIN METABOLISM
ENZYMES INVOLVED IN LIPOPROTEIN METABOLISM
TRANSFER PROTEINS INVOLVED IN LIPOPROTEIN METABOLISM
RECEPTORS INVOLVED IN LIPOPROTEIN METABOLISM
OTHER PROTEINS INVOLVED IN LIPOPROTEIN SYNTHESIS, TRANSPORT AND METABOLISM
CLASSIFICATION OF LIPOPROTEIN DISORDERS
THE PRIMARY DYSLIPOPROTEINAEMIAS
ACQUIRED HYPERLIPIDAEMIAS
ACQUIRED HYPOLIPIDAEMIA
INVESTIGATION OF LIPID DISORDERS
TREATMENT OF HYPERLIPIDAEMIA
CONCLUSION
ACKNOWLEDGEMENT
Further reading
CHAPTER 38 Clinical biochemistry of the cardiovascular system
INTRODUCTION
CARDIAC MUSCLE STRUCTURE AND BIOCHEMISTRY
ARTERIAL STRUCTURE AND FUNCTION
ATHEROSCLEROSIS
ACUTE MYOCARDIAL DAMAGE
HEART FAILURE
CARDIOVASCULAR RISK FACTORS
HYPERTENSION
CONCLUSION
Further reading
APPENDIX 1 PROTOCOL FOR INVESTIGATION OF ALDOSTERONISM: SCREENING AND CONFIRMATORY TESTS
CHAPTER 39 Therapeutic drug monitoring
INTRODUCTION
USE OF THERAPEUTIC DRUG MONITORING
PROVISION OF A THERAPEUTIC DRUG MONITORING SERVICE
PHARMACODYNAMIC MONITORING, BIOMARKERS AND PHARMACOGENETICS
INDIVIDUAL DRUGS
ACKNOWLEDGEMENT
Further reading
APPENDIX 39.1 CALCULATIONS FOR THE DETERMINATION OF DOSE REQUIREMENTS TO ACHIEVE STEADY-STATE CONCENTRATIONS
CHAPTER 40 Poisoning
INTRODUCTION
AETIOLOGY OF POISONING
TYPES OF LESION IN POISONING
DIAGNOSIS AND MANAGEMENT OF POISONING: GENERAL PRINCIPLES
SPECIFIC POISONS
CONCLUSION
ACKNOWLEDGEMENT
Further reading
APPENDIX 40.1 POISONS CENTRES
CHAPTER 41 Metabolic effects of tumours
INTRODUCTION
NEUROENDOCRINE TUMOURS
MULTIPLE ENDOCRINE NEOPLASIA
METABOLIC CHANGES IN MALIGNANCY
ENDOCRINE SEQUELAE OF TUMOURS AND THEIR TREATMENT
CONCLUSION
Further reading
CHAPTER 42 Tumour markers
INTRODUCTION
TUMOUR MARKERS IN THE MANAGEMENT OF SPECIFIC CANCERS
SUMMARY
Further reading
CHAPTER 43 Molecular clinical biochemistry
INTRODUCTION
GENES AND GENE EXPRESSION
THE TECHNIQUES OF GENETIC ANALYSIS
THE APPLICATIONS OF DNA ANALYSIS
GENE THERAPY
CONCLUSION
ACKNOWLEDGEMENTS
Further reading
CHAPTER 44 Forensic biochemistry
INTRODUCTION
SAMPLES AND SAMPLING
POISONING WITH ENDOGENOUS AGENTS
POST-MORTEM BIOCHEMISTRY
SPECIFIC DIAGNOSTIC PROBLEMS
Further reading
Index

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Clinical Biochemistry:Metabolic and Clinical Aspects

With Expert Consult access

Purchase options

Save 50% on book bundles

Institutional subscription on ScienceDirect

Resources

William J. Marshall

Márta Lapsley

Andrew Day

Ruth Ayling