Index

Page numbers suffixed by ‘b,’ ‘f,’ and ‘t‘ refer to boxes, figures and tables respectively.

Note

Abdomen, acute 227–230

causes 228, 228b

Abdominal pain, in acute porphyria 538, 541

Abetalipoproteinemia 689, 700, 722t, 724

ABO blood group 510, 510t

laboratory tests 511, 511t

Abortion, spontaneous 443

Acanthosis nigricans 294–295

Acarbose 317

Accidental poisoning 788 See also Poisoning

Accuracy 10–11

Acetaldehyde 257

Acetaminophen See Paracetamol

Acetoacetate, in ketoacidosis 77, 299, 327

Acetyl-CoA, metabolism 647–649, 650f, 657

Acetylcysteine 794t, 796

N-Acetyl β-D-glucosaminidase (NAG) 161–162, 162b

N-Acetylglutamate synthetase (NAGS) deficiency 463f, 478

N-Acetyl-p-benzoquinoneimine (NAPQI) 795, 795f

Acetylsalicylic acid See Aspirin

Aches

in articular disorders 638–639 See also Pain

Acholuric jaundice 245

Acidaemia 65–66

methylmalonic 479, 480f

propionic 479, 480f

Acid–base disturbances See Hydrogen ion homeostasis, disorders

Acid–base status

in acute kidney injury 140

assessment 73–74

in chronic kidney disease 143–144

data interpretation 85–86, 85f

potassium distribution and 32 See also Hydrogen ion homeostasis

Acid-labile subunit (ALS), in tumour-related hypoglycaemia 282, 343

effect on TmP/GFR 112

lactic See Lactic acidosis

metabolic See Acidosis, non-respiratory

osteomalacia and 623

potassium secretion and 33

in renal disease 78–80

acute kidney injury 78–79, 140

chronic kidney disease 78–79, 143

renal hypokalaemic 54–55, 54b, 57

renal tubular See Renal tubular acidosis (RTA)

respiratory See Acidosis, respiratory

systemic effects 75–76

urinary ammonium excretion 71

Acidosis, non-respiratory 74–80

biochemical characteristics 75

buffering 74

causes 74, 75b, 76–80

compensatory responses 73, 74–75

in diabetic subjects 330 See also Diabetic ketoacidosis (DKA)

differential diagnosis 469b

hyperventilation 73, 74–75

in inherited metabolic disease 469, 469b, 473–474

interpretation of acid–base data 85, 85f

management 76

in neonates 488

osteomalacia and 623

poisoning-related 790t

renal hydrogen ion excretion 75 See also specific causes

Acidosis, respiratory 80–82

biochemical characteristics 81

buffering 80–81

causes 81b

compensatory responses 80–81

hyperventilation 81

interpretation of acid–base data 85, 85f

management 81–82

renal hydrogen ion excretion 81

systemic effects 81

Acid phosphatase, tartrate-resistant 613

Acidurias, amino 136, 170–172

Acid α-glucosidase 654–655

Acinus 232–233, 233f

Acquired immunity 560 See also Adaptive immune system

Acromegaly 362–363

diagnosis 362

management 362–363

monitoring response to therapy 363

presentation 362–363

hypertension 748–749

peripheral neuropathy 693

secondary diabetes 294

ACTH See Adrenocorticotrophic hormone (ACTH)

Actin 646, 647f, 740

Action limits 16

Activated charcoal 794, 797, 798, 803

Activated partial thromboplastin time (APTT) 508, 509t

Active transport, in renal tubule 169f

Activin 436–437

Acute abdomen See Abdomen, acute

Acute chest syndrome 556

Acute confusional state See Delirium

Acute coronary syndrome (ACS) 738, 739f, 744

non-ST elevation 739f, 744

treatment 744, 744f See also Myocardial damage, acute; Myocardial infarction

Acute dilutional hyponatraemia 46–47, 47f, 50

causes 47b

laboratory investigation 50

management 51 See also Hyponatraemia

Acute fatty liver of pregnancy (AFLP) 263, 445, 465–466

Acute intermittent porphyria (AIP) 534t, 537t, 538

hepatocellular carcinoma risk 539

homozygous 542

molecular genetics 534–537, 537t

pathophysiology 538

screening 541t See also Porphyria(s), acute

Acute kidney injury (AKI) 136–141

acid–base balance 140

causes 136–137, 137b

chronic kidney disease vs. 136

in cirrhosis 260–261

differential diagnosis 261, 261t

classification 136–137

clinical features 136t

fluid and electrolyte balance 140

hepatorenal syndrome See Hepatorenal syndrome (HRS)

hypertension in 759

intrinsic 137b, 138–139

diagnosis 138, 138t

management 140–141

general 140

renal replacement treatment 141

metabolic consequences 140–141

acidosis 78–79, 140

hypercalcaemia 103t, 140

hyperkalaemia 140

metabolic features 136t

nutrition and 140

poisoning-related 793

postrenal (obstructive) 137b, 139

prerenal 137–138, 137b

diagnosis 137–138, 138t

management 138

in setting of chronic kidney disease 139, 139b

Acute liver failure (ALF) 253

amino acid metabolism 235

assessment of prognosis 249

carbohydrate metabolism 234

laboratory features 253

liver transplantation 253

monitoring 246

in pregnancy 263

progression from viral hepatitis 252–253

Acute myeloid leukaemia (AML) 505f

Acute myelomonocytic leukaemia, renal potassium loss 56

Acute phase proteins 408, 571–572

functions 572t

properties 572, 572t

psychiatric disorder investigation 676t

Acute phase reactants, liver function tests 243

Acute phase response, investigation/markers 598, 644

Acute phosphate deficiency syndrome 116, 116t

Acute rejection 599b

Acute renal failure See Acute kidney injury

Acute sodium loading 38

Acute tubular necrosis (ATN) 138–139

natural history 139

pathogenesis 138, 139f

Acylcarnitine profiling 473

Acyl-CoA:cholesterol acyltransferase (ACAT) 718

Acyl-CoA:cholesterol acyltransferase 2 (ACAT2) 711, 718

Acyl-CoA dehydrogenases 647–649, 649f

Acylglycines, measurement in urine 657

Adaptive immune system 562–570, 562t

antigen recognition 566–570

cells 562, 562t, 563t, 564f See also White blood cells (WBCs)

cellular immune activation 570

lymphoid tissue 562, 562t, 563f

soluble mediators 562, 562t

Addison disease 59, 583

clinical features 369–370

Addisonian crisis 369–370

hypoglycaemia in 345

Adenohypophysis See Pituitary gland anterior lobe

Adenomas

pituitary See Pituitary adenomas

toxic See Toxic adenoma

Adenomatous primary hyperparathyroidism 101, 102t, 103–104

Adenosine deaminase (ADA) deficiency 481, 528

Adenosine phosphoribosyl transferase (APRT) deficiency 178

Adenosine triphosphate (ATP) 109–110

generation in red blood cells 517, 518f

defective 528

muscle contraction role 646

cardiac muscle 740–741

Adenoviruses, gene therapy vectors 870

Adenylate kinase 647

Adherence, drug 767–768

therapeutic drug monitoring 772

Adipocyte lipid-binding protein (ALBP) 717

Adipose tissue

insulin actions 280t

lipolysis 713

Adipose triglyceride lipase (ATGL) 713

Adipsic hypernatraemia 44

Adjustable gastric band (AGB) 206, 206f

Adolescents, with disorder of sex development 419–420, 419f

hormone replacement therapy, monitoring 370–371 See also specific diseases

function, depression and 678–679, 680

function tests

steroid therapy and 358–359 See also Adrenocorticotrophic hormone (ACTH)–adrenal axis, assessment

physiology 352, 353f

Adrenal incidentaloma 762, 764

assessment 370

Adrenaline

secretion, hypoglycaemia response 334

stress response 405, 407–408

Adrenaline:noradrenaline ratio, post-mortem biochemistry 879t, 880–882

Adrenal insufficiency, primary See Addison disease

Adrenal medulla, stress response 405

Adrenal suppression, steroid therapy-associated, assessment 358–359

Adrenarche 414

premature 429

Adrenergic receptors 407

Adrenocorticotrophic hormone (ACTH) 350–351

deficiency 352, 354, 358, 360

hypoglycaemia due to 345

investigation 353–354, 357, 358

isolated 369

in depression 678–679

petrosal sinus sampling 365–366

plasma measurements, Cushing syndrome 364, 365

in post-traumatic stress disorder 679

secretion 350–351

ectopic 364, 761t, 814, 815t See also Adrenocorticotrophic hormone (ACTH)-dependent Cushing syndrome

stress response 9, 404

test (short tetracosactide test) 354, 355, 358, 372

Adrenocorticotrophic hormone (ACTH)–adrenal axis, assessment

clinical approach 358–359

dynamic tests of function 354–355

reproducibility 355

Adrenocorticotrophic hormone (ACTH)-dependent Cushing syndrome

clinical context 364–365

differential diagnosis 364, 364f See also Cushing syndrome

Adrenoleukodystrophy (ALD) 465

Adrenoleukodystrophy protein (ALDP) 465

Adrenomyeloneuropathy (AMN) 465, 689

Advanced glycation end products (AGEs) 296–297

Adynamic bone disease 625

Aerobic exercise tests 655

Affective disorders 675, 675t See also specific affective disorders

Affinity maturation 561

AFP (α-fetoprotein)

Down syndrome screening 443

liver function tests 242

plasma concentrations

in children 837–838

effect of gestational age on 443, 443f

as tumour marker 264, 822t, 826t

gastric cancer 831

germ cell tumours 832, 833–834, 833f, 834f

hepatocellular carcinoma 264, 835–836, 838

Age

body fluid distribution in relation to 28t

cardiovascular disease risk and 751, 751f

effect on test results 8, 8t

effect on urinary protein excretion 155

Age-related changes

alkaline phosphatase 8, 493, 610f, 632

bone 609, 615

cerebrospinal fluid proteins 663, 663t

immunoglobulins 575–576, 576f

osteocalcin 610f, 632

plasma phosphate concentration 113, 113t

thyroid function 379

Agouti-related peptide (AgRP) 203

Alanine aminotransferase (ALT)

in acute hepatitis 251

in alcoholic hepatitis 257

analytical goals 11t

analytical variation 11t

biological variation 11t

in cerebrospinal fluid 667

critical difference 15t

liver function tests 240

in muscle disease 653 See also Aminotransferases

Alarmins 406

Albright hereditary osteodystrophy 491

Albumin 2, 242

analytical goals 11t

analytical variation 11t

biological variation 11t

cerebrospinal fluid 663, 663f, 663t

in assessment of blood–brain barrier permeability 664

clearance 154t

critical difference 15t

glomerular filtration rate 153–154, 160

liver function tests 242

oncotic pressure 28

plasma concentration

in chronic hepatitis 254

in malnutrition 194–195

in pregnancy 446

in protein–energy malnutrition 201

reabsorption 154

sodium excess and 37

thyroid hormone transport 376

urinary excretion 152, 155, 155t

age-related differences 155

in diabetes 322

diet and 155

glomerular vs. tubular disease 160, 160t

in pregnancy 156 See also Microalbuminuria

urine, measurement 165–166

investigation of stone formers 178

Alcohol

acid–base disturbances 77

cardiovascular disease risk and 756

effects 800

on biochemical variables 8t

on bone mineral density 615

on protein metabolism 258

hypertriglyceridaemia association 731

metabolism 257, 801f

metabolites, measurement 258

poisoning 685, 792t, 799–800, 801f

withdrawal syndrome 800 See also Alcohol misuse

Alcoholic hepatitis 251, 254t, 257, 800

Alcoholic ketoacidosis 76–77, 330, 800

Alcoholic liver disease 257–258, 800

biochemical abnormalities 257–258

γ-glutamyltransferase activity 241, 257

iron overload 257

differential diagnosis 254t, 255

laboratory tests 258

liver pathology 257–258

Alcoholic steatosis 257–258

Alcohol-induced hypoglycaemia 321, 346–347

Alcohol misuse

acute pancreatitis and 228, 229t

diabetes mellitus and 293

thiamin deficiency and 686 See also Alcohol

Aldolase B deficiency 464

Aldose reductase 296

diabetic neuropathy pathophysiology 691–692

Aldosterone 28–29, 29f

effect of posture 9

effect of potassium 33

menstrual cycle and 38

in pre-eclampsia 38

reference ranges 766

in stress response 406

in syndromes of hypoaldosteronism 59–60, 59t

Aldosterone-producing adenoma (APA) 760–761

localization 762 See also Hyperaldosteronism

Aldosterone:renin ratio 762

confounding factors 762

protocol for investigation 765–766

Aldosteronism See Hyperaldosteronism

Alendronate 617–618

Alfacalcidol 98, 622, 623, 627

Alkalaemia 65–66

Alkaline phosphatase (ALP) 239, 609

in acute hepatitis 251

age-related changes 8, 493, 610f, 632

analytical goals 11t

analytical variation 11t

biological variation 11t

bone 607

as turnover marker 609–610, 610f, 626, 630

in chronic hepatitis 254

in chronic kidney disease–mineral and bone disorder 626

critical difference 15t

in hypophosphatasia 624

in infants 492–493

iso-enzymes 239

analysis 240, 240f

liver function tests 239–240, 245, 247

enhancement of specificity 240, 240f

in osteopenia of prematurity 492, 492t

in Paget disease 630

parenteral nutrition-associated changes 264

placental, as tumour marker 823t, 832

in pregnancy 262–263, 446

in primary biliary cirrhosis 256

in primary sclerosing cholangitis 256–257

sex-related changes 493

Alkalosis

effect on TmP/GFR 112

metabolic See Alkalosis, non-respiratory

post-hypercapnic 81, 83

potassium secretion and 33

renal hypokalaemic 54b, 55–56, 57

respiratory See Alkalosis, respiratory

systemic effects 83

Alkalosis, non-respiratory 75

biochemical characteristics 83

buffering 82

causes 82b, 83–84

compensatory responses 82–83

hypoventilation 82

interpretation of acid–base data 85, 85f

management 83

potassium depletion 82–83

renal bicarbonate excretion 82–83

systemic effects 83

Alkalosis, respiratory 84–85

biochemical features 84

causes 84b

compensatory responses 84

hypophosphataemia 116

in inherited metabolic disease 469

management 84–85

systemic effects 84

Alkapton 643

Alkaptonuria 482, 482f

articular manifestations 643

Allan–Herndon–Dudley syndrome 377

Alleles 848

definition 871

Allele-specific amplification 855–856, 856f

Allele-specific oligonucleotide (ASO) technique 855, 856f

reverse method 856–857

Allergies 580–582

clinical features 580

investigation 580–581

IgE measurement 581, 581t, 582t

indications 581t

patient history 580–581, 580t

skin prick testing 581, 581t

prevalence 580

therapeutic diets 209t See also Anaphylaxis

Allopurinol 641

Allopurinol loading test 475

Alpha-glucosidase inhibitors 317

Alpha-subunit, measurement 386

Alpha thalassaemia 552–553, 552t, 558

α-Blockers, hypertension management in diabetes mellitus 309

Alprostadil 459

Alstrom syndrome 202t

Alternative pathway, complement activation 570, 571f

Aluminium

plasma concentrations, measurement 626–627, 635

retention in chronic kidney disease–mineral and bone disorder 625

clinical features 625

investigation 626–627, 635

toxicity, treatment 628

Aluminium hydroxide 114–115

toxicity 148–149

Alveolar gas equation 87

Alveolar ventilation 87

Alzheimer disease 665, 670, 677

apolipoprotein E and 710, 719

cerebrospinal fluid analysis 670–671

genetics 678

markers 678

Amadori products 296–297

Amadori rearrangement 300–301

hypothalamic 353, 356–357, 368f, 369

investigations, in adolescent girls 419, 419f

Amfetamine abuse 792t, 801, 801t

Amikacin, therapeutic drug monitoring 781

Amino acid(s)

essential 183, 183b

metabolism See Amino acid metabolism

non-essential 183, 183b

parenteral nutrition 211

plasma analysis, in inherited metabolic diseases 472, 472b

renal tubular handling 168, 170

transporters, L-type 377

urinary analysis, in inherited metabolic diseases 472, 472b

Amino acid disorders 472, 472t

investigation 472, 472b

primary 472

renal 472, 472t See also specific disorders

Amino acid metabolism 69–70

disorders See Amino acid disorders

hepatic 235, 235f

Aminoacidurias 136, 170–172

Aminoglycoside antibiotics

therapeutic drug monitoring 770–771, 773, 781

toxicity 161, 781

Aminoguanidine 692

5-Aminolaevulinic acid (ALA) dehydratase 533, 535f

5-Aminolaevulinic acid dehydratase deficiency porphyria (ADP) 534t, 542

biochemical findings 537t, 542

molecular genetics 537t

5-Aminolaevulinic acid synthase (ALAS) 533, 535f

Aminotransferases, liver function tests 240–241, 245, 247–248

in acute hepatitis 251

in alcoholic hepatitis 257

in chronic hepatitis 254

in hepatitis B infection 255

parenteral nutrition-associated changes 264

in primary sclerosing cholangitis 256–257

Amiodarone, therapeutic drug monitoring 777

Amiodarone-induced thyroid dysfunction 390t, 393

Amitriptyline, therapeutic drug monitoring 780

Ammonia

buffering 67

intoxication, urea cycle defects 462, 469

plasma measurements, in inherited metabolic diseases 469, 470

production and clearance 235, 235f

Ammonium

buffering 67

urinary excretion 67, 71, 72f

non-respiratory acidosis 75

respiratory acidosis 81

Amniocentesis 444–445, 444f, 444t, 476, 860

Amplification refractory mutation system (ARMS), genetic analysis in cystic fibrosis 863–864, 864f

Amylase

clearance 154t

elevated activity, non-pancreatic causes 218t

pancreatic function testing 217–218

acute pancreatitis 228–229

salivary 221

Amylin 288

Amylo-1:6-glucosidae 654–655

Amyloid A, properties 572t

Amyloidosis 596–597, 597t, 697–699

biochemical abnormalities 696b

Amyloid precursor protein (APP) 678

Amyloid protein β 665–666

deposition in Alzheimer disease 678

Amylopectin 182f, 220–221

Amylose 182f, 220–221

Amyotrophy, diabetic 324

Anaemia 517

aplastic 524

associated with increased red cell loss 524–529 See also Haemolytic anaemia

associated with reduction in red cell production 517–524

acquired causes 524

inherited causes 524

nutritional deficiencies 517–520

vitamin B₁₂ and folate deficiency See Megaloblastic anaemia

of chronic disease 524, 643–644, 816, 816t

in chronic kidney disease 143, 147, 149

classification 517

definition 501, 517

in erythropoietic protoporphyria 547

in gastric and small bowel disease 220

haemolytic See Haemolytic anaemia

in hypothyroidism 395

investigation in immunological diseases 601t

iron deficiency See Iron deficiency anaemia

leukoerythroblastic 524

in malignancy 816, 816t

megaloblastic See Megaloblastic anaemia

morphological changes in red blood cells 501–503

pernicious See Pernicious anaemia

in rheumatoid arthritis 643–644

sickle cell See Sickle cell disease

symptoms 517

Anaerobic glycolysis See Glycolysis

Anaesthesia, porphyria patients 542

Analbuminaemia, congenital 37

Analgesics

narcotic, antidote 794t

therapeutic drug monitoring 777

tubular damage 161

Analytical factors, affecting test results 10–12

Analytical goals 11t, 12

Analytical precision 11, 11t

Analytical range 10–12

Analytical variation 9–10, 11, 11t, 15

Anaphylactic shock 574–575

Anaphylactoid reactions 581–582

post-mortem biochemistry 880

Anaphylatoxins 157, 571t

Anaphylaxis 581–582

clinical features 582t

investigation 582, 601t

mediators 572t, 581–582

post-mortem biochemistry 880

treatment 581–582

Androgen(s) 262

deficiency/resistance, XY disorder of sex development 425, 426t

effect on prostate cancer 820

excess

polycystic ovary syndrome 440

XX disorder of sex development 423–425, 424t

in females 439

secretion 352

sensitivity, assessment 428

Androgen insensitivity syndromes 456

complete 426t, 427–428, 456

partial 419–420, 426t, 427–428, 456

Androstenedione

biosynthesis 437–438, 438f

in females 439

excess 440

human chorionic gonadotrophin stimulation test 422

Angelman syndrome 852

Angina

stable 744

unstable 738, 739f, 744

Angiokeratoma corporis diffusum See Fabry disease

Angiopoietin-like protein 3 (ANGPTL3) 721

Angiotensin-converting-enzyme (ACE) 28–29, 29f

in cerebrospinal fluid 667

Angiotensin-converting-enzyme (ACE) inhibitors

control of pathological thirst 41

diabetes management

cardiovascular risk 309

kidney disease 323

hyperkalaemia risk 59

proteinuria management

in chronic kidney disease 156

Only gold members can continue reading. Log In or Register to continue

Stay updated, free articles. Join our Telegram channel

Tags: Clinical Biochemistry Metabolic and Clinical Aspects

Jun 18, 2016 | Posted by admin in BIOCHEMISTRY | Comments Off

Basicmedical Key

Fastest Basicmedical Insight Engine

Index

Index

Like this:

Related

Stay updated, free articles. Join our Telegram channel

Full access? Get Clinical Tree

Basicmedical Key

Fastest Basicmedical Insight Engine

Index

Index

Share this:

Like this:

Related

Related posts:

Stay updated, free articles. Join our Telegram channel

Full access? Get Clinical Tree