Clinical Chemistry

Cover......Page 1
Clinical Chemistry......Page 2
Copyright......Page 3
Preface......Page 4
Analytical Techniques......Page 7
Ions and Molecules of Biological Importance......Page 8
Elements of Cell Biology......Page 13
Transport Mechanisms......Page 14
The relevance of signalling systems to clinical biochemistry......Page 15
Monitoring......Page 17
The test request......Page 18
Urgent requests......Page 19
Analysis......Page 20
Reporting results......Page 21
Is it normal?......Page 22
Is it different?......Page 24
Specificity and sensitivity......Page 25
Predictive values......Page 26
Clinical Audit......Page 27
Screening......Page 28
Sodium distribution......Page 30
Water and extracellular fluid osmolality......Page 31
Sodium and extracellular fluid volume......Page 32
Water depletion......Page 35
Water excess......Page 37
Sodium excess......Page 39
Laboratory Assessment of Water and Sodium Status......Page 41
Sodium measurement......Page 42
Hyponatraemia......Page 43
Water excess......Page 44
The ‘sick cell syndrome’......Page 47
Hypernatraemia......Page 48
Potassium Homoeostasis......Page 49
Potassium Depletion and Hypokalaemia......Page 52
Investigation of hypokalaemia......Page 53
Potassium Excess and Hyperkalaemia......Page 54
Investigation of hyperkalaemia......Page 55
Management......Page 56
Buffering of hydrogen ions......Page 59
Bicarbonate reabsorption and hydrogen ion excretion......Page 60
Transport of carbon dioxide......Page 61
Clinical and Laboratory Assessment of Hydrogen Ion Status......Page 62
Disorders of Hydrogen Ion Homoeostasis......Page 63
Increased production of hydrogen ions......Page 65
The anion gap......Page 66
Management......Page 68
Management......Page 71
Interpretation of Acid–Base Data......Page 73
Oxygen Transport and Its Disorders......Page 76
Respiratory Failure and Respiratory Support......Page 78
Introduction......Page 81
The Biochemical Investigation of Kidney Function......Page 83
Plasma creatinine......Page 84
Estimated glomerular filtration rate......Page 85
Imaging and Renal Biopsy......Page 87
Acute kidney injury......Page 88
Causes and pathogenesis. A wide variety of conditions can cause intrinsic AKI. Many cases are due to nephrotoxic drugs or renal .........Page 89
Metabolic consequences.The characteristic biochemical changes in the plasma in AKI are summarized in Box 5.4. Hyponatraemia is c.........Page 90
Management of acute kidney injury......Page 91
Metabolic consequences of kidney failure......Page 94
Management of chronic kidney disease......Page 97
Proteinuria and the nephrotic syndrome......Page 98
The nephrotic syndrome......Page 99
Renal Fanconi syndrome......Page 100
Renal tubular acidosis......Page 101
Hypophosphataemic rickets......Page 102
Investigation......Page 103
Management......Page 104
Bilirubin Metabolism......Page 106
Plasma bilirubin concentration......Page 108
Plasma enzymes......Page 109
Other tests of liver function......Page 110
Acute hepatitis......Page 111
Cirrhosis......Page 113
Complications......Page 114
Non-alcoholic fatty liver disease......Page 116
Jaundice in adults......Page 117
Isolated abnormalities of ‘liver enzymes’......Page 118
Uncommon liver diseases......Page 120
Haemochromatosis......Page 121
Gallstones and biliary tract disease......Page 122
Liver disease in children......Page 123
Drugs and the liver......Page 124
Gastric disorders and investigation of gastric function......Page 127
Atypical peptic ulceration......Page 128
Acute pancreatitis......Page 129
Tests of pancreatic function......Page 131
The Small Intestine......Page 132
Tests of carbohydrate absorption......Page 133
Tests of fat absorption......Page 134
Non-biochemical tests of intestinal function......Page 135
Coeliac disease......Page 136
Other intestinal disorders......Page 137
Gastrointestinal Hormones......Page 138
Vitamin Deficiencies......Page 140
Vitamin B12......Page 141
Vitamin D......Page 142
Vitamin K......Page 143
Vitamins as Drugs......Page 144
Zinc......Page 145
Iron absorption and transport......Page 146
Plasma iron......Page 147
Provision of Nutritional Support......Page 148
Techniques for generalized nutritional support......Page 149
Parenteral nutrition......Page 150
Obesity......Page 151
Growth hormone......Page 155
Prolactin......Page 156
Thyroid-stimulating hormone......Page 157
Adrenocorticotrophic hormone......Page 158
Measurement of Anterior Pituitary Hormones......Page 159
Tests for adrenocorticotrophic hormone deficiency......Page 161
Hypopituitarism......Page 163
Pituitary tumours......Page 164
Growth hormone excess: acromegaly and gigantism......Page 165
Hyperprolactinaemia......Page 168
Vasopressin......Page 169
Management of diabetes insipidus......Page 172
Measurement of Adrenal Steroid Hormones......Page 175
Cortisol......Page 176
Aldosterone......Page 177
Adrenal hypofunction (Addison disease)......Page 178
Cushing syndrome......Page 181
Conn syndrome......Page 184
Congenital adrenal hyperplasia......Page 188
Disorders of the Adrenal Medulla......Page 191
Synthesis......Page 194
Thyroid hormones in blood......Page 195
Tests of Thyroid Function......Page 196
Free thyroxine and triiodothyronine......Page 197
Other tests for thyroid disease......Page 198
Problems in the interpretation of thyroid function tests......Page 200
Disorders of the Thyroid......Page 201
Hyperthyroidism......Page 202
Hypothyroidism......Page 203
Subclinical hypothyroidism......Page 204
Goitre and thyroid cancer......Page 205
Screening for thyroid disease......Page 207
Oestrogens and ovarian function......Page 209
Delayed puberty and hypogonadism in males......Page 210
Amenorrhoea and oligomenorrhoea......Page 213
Hirsutism and virilism......Page 216
Infertility......Page 217
Pregnancy......Page 218
Maternal monitoring......Page 219
Fetal monitoring......Page 220
Introduction......Page 222
Aetiology and pathogenesis......Page 225
Type 2 diabetes mellitus......Page 227
Pathophysiology and clinical features......Page 228
Diagnosis......Page 229
Management......Page 232
Monitoring treatment......Page 233
Pathogenesis......Page 234
Management......Page 237
Hyperosmolar hyperglycaemic state......Page 238
Management......Page 240
Diabetic nephropathy......Page 241
Glycosuria......Page 242
Diagnosis......Page 243
Insulinoma......Page 245
Sepsis......Page 247
Neonatal hypoglycaemia......Page 248
Hypoglycaemia in infancy......Page 249
Plasma Calcium......Page 252
Parathyroid hormone......Page 254
Calcitonin......Page 256
Calcium and Phosphate Homoeostasis......Page 257
Malignant disease......Page 258
Secondary and tertiary hyperparathyroidism......Page 259
Other causes of hypercalcaemia......Page 260
Management......Page 261
Vitamin D deficiency......Page 262
Hypoparathyroidism......Page 263
Hyperphosphataemia......Page 264
Management......Page 265
Hypomagnesaemia......Page 266
Rickets and osteomalacia......Page 269
Osteoporosis......Page 271
Prevention and management......Page 272
Other metabolic bone diseases......Page 273
Articular Disease......Page 274
Uric acid metabolism......Page 275
Gout......Page 276
Natural history. Four stages in the natural history of gout have been described. Asymptomatic hyperuricaemia can be present for .........Page 278
Other crystalline arthropathies......Page 279
Capillary zone electrophoresis of proteins......Page 281
Albumin......Page 282
α1-Antitrypsin......Page 284
Acute phase proteins and the acute phase response......Page 285
Immunoglobulins......Page 286
Pathological causes......Page 287
Paraproteins......Page 288
Plasma Enzymes......Page 291
Disadvantages of enzyme assays......Page 292
γ-Glutamyltransferase......Page 293
Creatine kinase......Page 294
Cholinesterase......Page 295
Tryptase......Page 296
Triglycerides, Cholesterol and Phospholipids......Page 298
Classification of Lipoproteins......Page 299
Chylomicrons......Page 300
Very-low-density and intermediate-density lipoproteins......Page 301
High-density lipoprotein......Page 302
Reference ranges and clinical goals......Page 304
Clinical indications for lipid testing......Page 305
Secondary hyperlipidaemias......Page 307
Polygenic hypercholesterolaemia......Page 308
Remnant hyperlipoproteinaemia......Page 309
Familial combined hyperlipidaemia......Page 310
Risk factors and risk assessment......Page 311
Hypertriglyceridaemia......Page 312
Myocardial Infarction......Page 313
Cerebrovascular disease and peripheral vascular disease......Page 314
Hypertension......Page 315
Muscle Diseases......Page 319
Muscular dystrophies......Page 320
Nervous System Disease......Page 321
Dementia......Page 322
Ataxia......Page 323
Examination of the Cerebrospinal Fluid......Page 324
Metabolic side effects of psychotropic drugs......Page 326
Introduction......Page 328
Accumulation of the substrate......Page 329
Galactosaemia......Page 330
Phenylketonuria......Page 331
Related conditions......Page 332
Cystic fibrosis......Page 333
The porphyrias......Page 334
Diagnosis......Page 336
Newborn Screening......Page 338
Maternal and fetal screening......Page 339
DNA Analysis......Page 340
Complex formation and removal of toxic substances......Page 341
Replacement of the defective gene......Page 342
Neuroendocrine tumours......Page 344
Hypercalcaemia of malignancy......Page 345
Other paraneoplastic endocrine syndromes......Page 346
Other Metabolic Complications of Malignant Disease......Page 347
Carcinoid Tumours......Page 348
Management......Page 349
Multiple Endocrine Neoplasia......Page 350
α-Fetoprotein......Page 351
Carbohydrate antigen markers......Page 352
Other hormones as tumour markers......Page 353
Conclusion......Page 354
Therapeutic Drug Monitoring......Page 356
Immune system modulating drugs......Page 358
Anticonvulsants......Page 359
Digoxin......Page 360
Methotrexate......Page 363
Management......Page 364
Management......Page 365
Management......Page 366
Iron......Page 368
Clinical features and effects......Page 369
Poisons causing formation of abnormal haemoglobin derivatives......Page 370
Drug and substance abuse......Page 371
Pharmacogenomics......Page 372
Reference ranges......Page 373
Screening......Page 374
Jaundice......Page 375
Failure to thrive......Page 376
Disorders of sex development and abnormal puberty......Page 378
Adult Reference Ranges......Page 380