Manuale di pediatria

Front Cover
Inside Front Cover
Illustrated Textbook of Paediatrics
Copyright Page
Table Of Contents
Foreword
Preface
List of Contributors
Acknowledgements
1 The child in society
	The child’s world
		The child
		Immediate social environment
			Family structure
			Parenting styles
			Siblings and extended family
			Cultural attitudes to child-rearing
			Peers
			Socioeconomic status
		Local social fabric
			Neighbourhood
			Health service delivery
			Schools
			Travel
		National and international environment
			Economic wealth
			Media and technology
			War and natural disasters
	Well-being
	Important public health issues for children and young people
		Child mortality (Fig. 1.4)
			Comparison with other European countries
		Inequalities in child heath
			What causes inequalities?
		Child protection and variation in outcomes
		Obesity
		Emotional and behavioural difficulties
		Disability
		Smoking, alcohol, and drugs
	Major public child health initiatives
		National Service Framework
		Every Child Matters
		The Healthy Child Programme and Family Nurse Partnership
		Sure Start
	Conclusion
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
		Child health initiatives
2 History and examination
	Taking a history
		Introduction
		Presenting symptoms
		General enquiry and systems review
		Past medical history
		Medication
		Family history
		Social history
		Development
	An approach to examining children
		Adapting to the child’s age
	Obtaining the child’s cooperation
		Undressing children
		Warm, clean hands
		Developmental skills
	Examination
		Initial observations – watch before you examine
			Severity of illness
			Measurements
		Approach to examination
		General appearance
		Respiratory system
			Cyanosis
			Clubbing of the fingers and/or toes
			Tachypnoea
			Dyspnoea
			Chest shape
			Palpation
			Percussion
			Auscultation (ears and stethoscope)
		Cardiovascular system
			Cyanosis
			Clubbing of fingers or toes
			Pulse
			Inspection
			Palpation
			Percussion
			Auscultation
			Heart sounds
			Murmurs
			Hepatomegaly
			Femoral pulses
			Blood pressure (see later in chapter)
		Abdomen
			Associated signs
			Inspection
			Palpation
			Tenderness
				Hepatomegaly
					Splenomegaly
		Kidneys
		Abnormal masses
			Percussion
			Auscultation
			Genital area
				In males
				In females
			Rectal examination
		Neurology/neurodevelopment
			Brief neurological screen
			More detailed neurological examination
				Cranial nerves
				Inspection of face
				Inspection of limbs
					Muscle bulk
					Muscle tone
						Tone in limbs
						Truncal tone
						Head lag
					Power
				Coordination
				Sensation
				Reflexes
				Plantar responses
				Patterns of movement
		Bones and joints
		Neck
			Thyroid
			Lymph nodes
		Eyes
			Examination
			Ophthalmoscopy
		Ears and throat
			Ears
			Throat
	Communicating with children
	Investigations during consultation
		Blood pressure
			Sphygmomanometer
			Measurement
		Urinalysis
		Peak flow or lung function tests
	Summary and management plan
	Acknowledgements
	Further reading
3 Normal child development, hearing and vision
	Influence of heredity and environment
	Fields of development
	Developmental milestones
		Median and limit ages
		Variation in the pattern of development
		Why motor development is most rapid in the first years of life
		Adjusting for prematurity
	Is development normal?
	Pattern of child development
	Cognitive development
	Analysing developmental progress
		Detailed assessment
			The short-cut approach
			Observation during questioning
			Equipment for developmental testing
	Developmental screening and assessment
	Child health surveillance
	Hearing
		Hearing tests
			Newborn
			Distraction testing
			Visual reinforcement audiometry
			Performance and speech discrimination testing
			Audiometry
		Parental concern
	Vision
		Vision testing
	Acknowledgements
	Further reading
		Websites (accessed November 2016)
4 Developmental problems and the child with special needs
	Abnormal development – key concepts
	Developmental delay
	Abnormal motor development
		Cerebral palsy
			Causes
			Clinical presentation
				Spastic cerebral palsy
				Dyskinetic cerebral palsy
				Ataxic (hypotonic) cerebral palsy
			Management
	Disordered speech and language development
	Abnormal development of social/communication skills (autism spectrum disorders)
		Management
	Slow acquisition of cognitive skills/general learning difficulty
	Specific learning difficulty
		Developmental coordination disorder or dyspraxia
		Dyslexia
		Dyscalculia, dysgraphia
		Disorder of executive functions
		Associated comorbidities of specific learning disorders
		Management of specific learning disorders
		Problems with concentration and attention
			Attention deficit hyperactivity disorder
	Hearing impairment
		Sensorineural hearing loss
		Conductive hearing loss
	Abnormalities of vision and the ocular system
		Nystagmus
		Squint (strabismus)
			Corneal light reflex test
			Cover test
		Refractive errors
			Hypermetropia (long sight)
			Myopia (short sight)
			Astigmatism (abnormal corneal curvature)
			Amblyopia
		Severe visual impairment
	Multidisciplinary child development services
	Education
	Transition of care to adult services
	The rights of disabled children
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
5 Care of the sick child and young person
	Primary care
	Secondary care
		Emergency and urgent care
		Hospital admission rates
	Children in hospital
		Putting the family and child at the centre of care
		Child-orientated environment
		Information and psychosocial support
		Skilled staff
		Multidisciplinary care – coordinating care across boundaries
		Tertiary care and networks
		Discharge from hospital
	Pain in children
		Acute pain
		Chronic pain
		Management
			Recognizing pain
			Responding to pain
			Reassessing pain
	Prescribing medicines for children
		Absorption
		Biology
		Clearance
		Distribution
	Communicating serious problems
		Initial interview
	Palliative and end-of-life care
		Care plan
		Place of care
		Care after death
		Caring for staff
	Ethics
		Definitions of the principles of medical ethics
		Application of ethical principles to paediatrics
			Non-maleficence
			Beneficence
			Justice
			Autonomy
			Truth telling
		Consent
		Confidentiality
		Best interests
		The ethics of research in paediatrics
	Evidence-based paediatrics
		Why practise evidence-based paediatrics?
		To what extent is paediatric practice based on sound evidence?
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
6 Paediatric emergencies
	The seriously ill child
	Cardiopulmonary resuscitation
		Paediatric basic life support
		Paediatric advanced life support
	The seriously injured child
	Respiratory failure
		Assessment
		Supportive therapy
			Oxygen
			Noninvasive ventilation
			Invasive ventilatory support
	Shock
		Why are children so susceptible to fluid loss?
		Clinical features
		Management priorities
			Fluid resuscitation
			Subsequent management
	Sepsis
		Clinical features
		Management priorities
			Antibiotics
			Fluids
			Circulatory support
			Disseminated intravascular coagulation
	Anaphylaxis
	Neurological emergencies
		Convulsive status epilepticus
		Other encephalopathic illness
	Apparent life-threatening events
	Unexpected death of a child
		Sudden infant death syndrome
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
7 Accidents and poisoning
	Accidents
		Accident prevention
		Head and neck injuries
		Internal injuries
		Choking, suffocation and strangulation
		Drowning
		Burns and scalds
			Assessment
			Further management
	Poisoning
		Investigation and management
		Chronic environmental poisoning
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
8 Child protection
	Types of child abuse and neglect
		Physical abuse
		Emotional abuse
		Sexual abuse and sexual exploitation
		Neglect
		Fabricated or induced illness
		Intimate partner violence
		Female genital mutilation
	Prevalence of child maltreatment
	Safeguarding children
		Risk factors
		Presentation
			Child abuse and neglect
			Neglect
			Emotional abuse
			Sexual abuse
				Recognition
				Physical symptoms
				Behavioural symptoms
				Signs
		Investigation
		Management
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
9 Genetics
	Chromosomal abnormalities
	Disorders of chromosome number
		Down syndrome (trisomy 21)
			Clinical features
			Cytogenetics
				Meiotic nondisjunction (94%)
				Translocation (5%)
				Mosaicism (1%)
		Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)
		Turner syndrome (45, X)
		Klinefelter syndrome (47, XXY)
	Structural chromosome anomalies
		Reciprocal translocations
		Deletions
		Duplications
			Testing for submicroscopic copy number variants
	Mendelian inheritance
		Autosomal dominant inheritance
			Variation in expression
			Non-penetrance
			De novo mutation
			Homozygosity
			Knudson two-hit hypothesis
		Autosomal recessive inheritance
			Consanguinity
		X-linked inheritance
		Y-linked inheritance
	Unusual genetic mechanisms
		Trinucleotide repeat expansion mutations
			Fragile X syndrome
		Mitochondrial or cytoplasmic inheritance
		Imprinting and uniparental disomy
	Polygenic, multifactorial or complex inheritance
	Dysmorphology
		Pathogenic mechanisms
			Malformation
			Deformation
			Disruption
			Dysplasia
		Clinical classification of birth defects
			Single-system defects
			Sequence
			Association
			Syndrome
				Syndrome diagnosis
	Gene-based therapies
	Genetic services
		Genetic investigations
			Mutation analysis
			Next-generation sequencing
		Genetic counselling
			Presymptomatic (predictive) testing
		Acknowledgements
	Further reading
		Website (Accessed November 2016)
			Online resources
10 Perinatal medicine
	Pre-pregnancy care
	Antenatal diagnosis
		Fetal medicine
		Fetal surgery
	Obstetric conditions affecting the fetus
		Pre-eclampsia
		Placental insufficiency and intrauterine growth restriction (IUGR)
		Preterm delivery
		Multiple births
	Maternal conditions affecting the fetus
		Diabetes mellitus
		Hyperthyroidism
		Systemic lupus erythematosus
		Autoimmune thrombocytopenic purpura
	Maternal drugs affecting the fetus
		Alcohol and smoking
		Drug abuse
		Drugs given during labour
	Congenital infections
		Rubella
		Cytomegalovirus
		Toxoplasmosis
		Varicella zoster
		Syphilis
	Adaptation to extrauterine life
	Neonatal resuscitation
		Meconium aspiration
		Resuscitation of the preterm infant
		Post-resuscitation care
		Failure to respond to resuscitation
	Size at birth
		Definitions
		Patterns of growth restriction
		Monitoring the growth-restricted fetus
		The growth-restricted infant
		Large for gestational age infants
	Routine examination of the newborn infant
		Red reflex to identify eye abnormalities
		Detection of undescended testes in boys
		Checking for developmental dysplasia of the hip (DDH)
		Vitamin K therapy
		Newborn hearing screening
		Oxygen saturation screening for critical congenital heart disease
		Biochemical screening
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
11 Neonatal medicine
	Hypoxic-ischaemic encephalopathy
		Management
		Prognosis
	Birth injuries
		Soft-tissue injuries
		Nerve palsies
		Fractures
			Clavicle
			Humerus/femur
	Stabilizing the preterm or sick infant
	The preterm infant
		Respiratory distress syndrome
		Pneumothorax
		Apnoea and bradycardia and desaturation
		Temperature control
		Patent ductus arteriosus
		Fluid balance
		Nutrition
		Infection
		Necrotizing enterocolitis
		Preterm brain injury
		Retinopathy of prematurity
		Bronchopulmonary dysplasia
		Problems following discharge
	Jaundice
		Kernicterus
		Clinical evaluation
			Age at onset
			Jaundice <24 hours of age
				Haemolytic disorders
					Rhesus haemolytic disease
					ABO incompatibility
					G6PD (glucose-6-phosphate dehydrogenase) deficiency (see Ch. 23)
					Spherocytosis
				Congenital infection
			Jaundice at 2 days–2 weeks of age
				Physiological jaundice
				Breast milk jaundice
				Dehydration
				Infection
				Other causes
			Severity of jaundice
			Rate of change
			Gestation
			Clinical condition
		Management
			Phototherapy
			Exchange transfusion
			Jaundice at >2 weeks of age
	Respiratory distress in term infants
		Transient tachypnoea of the newborn
		Meconium aspiration
		Pneumonia
		Pneumothorax
		Milk aspiration
		Persistent pulmonary hypertension of the newborn
		Diaphragmatic hernia
		Other causes
	Infection
		Early-onset infection
		Late-onset infection
		Some specific infections
			Group B streptococcal infection
			L. monocytogenes infection
			Gram-negative infections
			Conjunctivitis
			Umbilical infection
			Herpes simplex virus infections
			Hepatitis B
	Hypoglycaemia
	Neonatal seizures
	Perinatal stroke
	Craniofacial disorders
		Cleft lip and palate
		Pierre Robin sequence
	Gastrointestinal disorders
		Oesophageal atresia
		Small bowel obstruction
		Large bowel obstruction
		Exomphalos/gastroschisis
	Child protection and the newborn
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
12 Growth and puberty
	Normal growth
		Fetal
		Infantile phase
		Childhood phase
		Pubertal growth spurt
	Measurement
	Puberty
	Short stature
		Familial
		Constitutional delay in growth and puberty
		Small for gestational age and extreme prematurity
		Chromosomal disorder/syndromes
		Nutritional/long-term illness
		Psychosocial deprivation
		Endocrine
			Hypothyroidism
			Growth hormone deficiency
			Corticosteroid excess, Cushing syndrome
		Extreme short stature
		Disproportionate short stature
		Examination and investigation
		Growth hormone treatment of short stature
	Tall stature
	Abnormal head growth
		Microcephaly
		Macrocephaly
		Asymmetric heads
		Craniosynostosis
	Premature sexual development
		Precocious puberty
			Females
			Males
		Management
		Premature breast development (thelarche)
		Premature pubarche (adrenarche)
	Delayed puberty
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
13 Nutrition
	The nutritional vulnerability of infants and children
		Low nutritional stores
		High nutritional demands for growth
		Rapid brain growth and development
		Effects of acute illness or surgery
		Long-term outcome of early nutritional deficiency
			Linear growth of populations
			Disease in adult life
	Infant feeding
		Breastfeeding
			Advantages
			Potential complications
			Establishing breastfeeding
		Formula feeding
		Introduction of whole, pasteurized cow’s milk
		Specialized infant formula
		Weaning
	Weight faltering
		Identifying weight faltering
		Causes of weight faltering
		Clinical features and investigation
		Management
		Outcome
	Malnutrition
		Assessment of nutritional status
			Dietary assessment
			Anthropometry
			Laboratory investigations
		Consequences of malnutrition
		The role of intensive nutritional support
			Enteral nutrition
			Parenteral nutrition (PN)
			Severe malnutrition
		Management
		Stunting
	Vitamin D deficiency
		Rickets
			Aetiology
			Clinical manifestations
			Diagnosis
			Management
	Other vitamin deficiencies
	Obesity
		Definitions
		Aetiology
		Prevention
		Endogenous causes
		Management
		Drug treatment and surgery
	Early childhood caries
		Prevention of early childhood caries
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
14 Gastroenterology
	Vomiting
		Gastro-oesophageal reflux
			Investigation
			Management
		Pyloric stenosis
			Diagnosis
			Management
	Crying
		Infant ‘colic’
	Acute abdominal pain
		Acute appendicitis
		Non-specific abdominal pain and mesenteric adenitis
		Intussusception
		Meckel diverticulum
		Malrotation
	Recurrent abdominal pain
		Management
		Abdominal migraine
		Irritable bowel syndrome
		Peptic ulceration, gastritis, and functional dyspepsia
		Eosinophilic oesophagitis
	Gastroenteritis
		Assessment
			Isonatraemic and hyponatraemic dehydration
			Hypernatraemic dehydration
		Investigation
		Management
			Hypernatraemic dehydration
			Antidiarrhoeal drugs (e.g. loperamide, Lomotil) and antiemetics
			Antibiotics
			Nutrition
		Postgastroenteritis syndrome
	Malabsorption
		Coeliac disease
		Diagnosis
		Management
		Food allergy and intolerance
		Other causes of nutrient malabsorption
	Chronic non-specific diarrhoea
	Inflammatory bowel disease
		Crohn’s disease
		Ulcerative colitis
	Constipation
		Hirschsprung disease
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
15 Infection and immunity
	The febrile child
		Clinical features
		Management
	Serious life-threatening infections
		Sepsis
		Meningitis
			Bacterial meningitis
				Pathophysiology
				Organisms
				Presentation
				Investigations
				Management
				Cerebral complications
				Prophylaxis
				Partially treated bacterial meningitis
			Viral meningitis
			Uncommon pathogens and other causes
			Neonatal meningitis
		Encephalitis/encephalopathy
		Toxic shock syndrome
		Necrotizing fasciitis/cellulitis
	Specific bacterial infections
		Meningococcal infection
		Pneumococcal infections
		H. influenzae infection
		Staphylococcal and group A streptococcal infections
			Impetigo
			Boils
			Periorbital cellulitis
			Staphylococcal scalded skin syndrome
	Common viral infections
		The human herpesviruses
			Herpes simplex virus infections
				Asymptomatic
				Gingivostomatitis
				Skin manifestations
				Eye disease
				Disseminated infection
		Chickenpox (primary varicella zoster infection)
			Clinical features
			Treatment and prevention
		Shingles (herpes zoster)
		Epstein–Barr virus: infectious mononucleosis (glandular fever)
		Cytomegalovirus
		Human herpesvirus 6 and human herpesvirus 7
		Human parvovirus B19
		Enteroviruses
			Hand, foot, and mouth disease
			Herpangina
			Meningitis/encephalitis
			Pleurodynia (Bornholm disease)
			Myocarditis and pericarditis
			Enteroviral neonatal sepsis syndrome
	Uncommon viral infections
		Measles
			Clinical features
			Treatment
			Prevention
		Mumps
			Clinical features
				Viral meningitis and encephalitis
				Orchitis
		Rubella (German measles)
	Prolonged fever
		Kawasaki disease
	Tuberculosis
		Clinical features
		Diagnosis
		Treatment
		Prevention and contact tracing
			Nontuberculous mycobacterial infections
	Tropical infections
	HIV infection
		Diagnosis
		Clinical features
		Treatment
		Reduction of vertical transmission
	Lyme disease
		Clinical features
		Diagnosis
		Treatment
	Immunization
		Rationale behind the immunization programme
		Complications and contraindications
	Immunodeficiency
		Primary immunodeficiencies
		Investigation
		Management
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
16 Allergy
	Mechanisms of allergic disease
	The hygiene hypothesis
	The allergic march
	Prevention of allergic diseases
		History and examination
		Management
	Food allergy and food intolerance
		Clinical features
		Diagnosis
		Management
	Eczema
	Allergic rhinitis and conjunctivitis (rhinoconjunctivitis)
	Asthma
	Urticaria and angioedema
	Drug allergy
	Insect sting hypersensitivity
	Anaphylaxis
	Acknowledgements
	Further reading
		Websites (Accessed December 2016)
17 Respiratory disorders
	Physiology of stridor and wheeze
	Upper respiratory tract infection
		The common cold (coryza)
		Sore throat (pharyngitis and tonsillitis)
		Acute otitis media
		Sinusitis
		Tonsillectomy and adenoidectomy
	Stridor
		Croup
		Acute epiglottitis
		Bacterial tracheitis (pseudomembranous croup)
		Other causes of stridor
	Wheeze
		Bronchiolitis
			Investigations and decision to admit
			Management
			Prevention of bronchiolitis
		Asthma
			Viral episodic wheeze
			Multiple trigger wheeze and asthma
			Pathophysiology of asthma
			Clinical features
			Investigations
			Management
			Bronchodilator therapy
			Preventer therapy
				Inhaled corticosteroids
				Add-on therapy
			Other therapies
			Allergen avoidance and other nonpharmacological measures
		Acute asthma
			Assessment
			Criteria for admission to hospital
			Management
			Patient education
		Other causes of acute wheezing
	Cough
		Acute cough
		Whooping cough (pertussis)
		Persistent or recurrent cough
	Pneumonia
		Clinical features
		Management
		Prognosis and follow-up
	Chronic lung infection
	Cystic fibrosis
		Epidemiology, genetics, and basic defect
		Pathophysiology
		Clinical features
		Diagnosis
		Management
			Respiratory management
			Nutritional management
			Teenagers and adults
	Primary ciliary dyskinesia
	Immunodeficiency
	Tuberculosis
	Sleep-disordered breathing
	Tracheostomy
	Long-term ventilation
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
18 Cardiac disorders
	Epidemiology
	Aetiology
	Circulatory changes at birth
	Presentation
		Antenatal diagnosis
		Heart murmurs
		Heart failure
			Symptoms
			Signs
		Cyanosis
	Diagnosis
	Nomenclature
	Left-to-right shunts
		Atrial septal defect
			Clinical features
				Symptoms
				Physical signs
			Investigations
				Chest radiograph
				ECG
				Echocardiography
			Management
		Ventricular septal defects
			Small VSDs
				Clinical features
					Symptoms
					Physical signs
				Investigations
					Chest radiograph
					ECG
					Echocardiography
				Management
			Large VSDs
				Clinical features
					Symptoms
					Physical signs (Fig. 18.5b)
				Investigations
					Chest radiograph (Fig. 18.5c)
					ECG (Fig. 18.5d)
					Echocardiography
				Management
		Persistent ductus arteriosus (persistent arterial duct)
			Clinical features
			Investigations
			Management
	Right-to-left shunts
		Hyperoxia (nitrogen washout) test
			Management of the cyanosed neonate
		Tetralogy of Fallot
			Clinical features
				Symptoms
				Signs
			Investigations
				Chest radiograph (Fig. 18.8c)
				ECG (Fig. 18.8d)
				Echocardiography
			Management
		Transposition of the great arteries
			Clinical features
				Symptoms
				Physical signs (Fig. 18.9b)
			Investigations
				Chest radiograph (Fig. 18.9c)
				ECG (Fig. 18.9d)
				Echocardiography
			Management
				Eisenmenger syndrome
	Common mixing (blue and breathless)
		Atrioventricular septal defect (complete)
		Complex congenital heart disease
			Tricuspid atresia
				Clinical features
				Management
	Outflow obstruction in the well child
		Aortic stenosis
			Clinical features
				Physical signs (Fig. 18.13b)
			Investigations
				Chest radiograph (Fig. 18.13c)
				ECG (Fig. 18.13d)
			Management
		Pulmonary stenosis
			Clinical features
				Physical signs (Fig. 18.14b)
			Investigations
				Chest radiograph (Fig. 18.14c)
				ECG (Fig. 18.14d)
			Management
		Adult-type coarctation of the aorta
			Clinical features (Fig. 18.15b)
			Investigations
				Chest radiograph (Fig. 18.15c)
				ECG
			Management
	Outflow obstruction in the sick infant
		Coarctation of the aorta
			Clinical features
				Physical signs
			Investigations
				Chest radiograph
				ECG
			Management
		Interruption of the aortic arch
		Hypoplastic left heart syndrome
			Clinical features
			Management
	Care following cardiac surgery
	Cardiac arrhythmias
		Supraventricular tachycardia
			Investigation
			Management
		Congenital complete heart block
		Other arrhythmias
	Syncope
	Chest pains
	Rheumatic fever
		Clinical features
			Chronic rheumatic heart disease
		Management
	Infective endocarditis
		Clinical signs
		Diagnosis
		Prophylaxis
	Myocarditis/cardiomyopathy
	Kawasaki disease
	Pulmonary hypertension
	Acknowledgements
	Further reading
		Website (Accessed November 2016)
19 Kidney and urinary tract disorders
	Assessment of the kidneys and urinary tract
	Congenital abnormalities
		Anomalies detectable on antenatal ultrasound screening
		Antenatal treatment
		Postnatal management
	Urinary tract infection
		Clinical features
		Collection of samples
		Bacterial and host factors that predispose to infection
			Infecting organism
			Antenatally diagnosed renal or urinary tract abnormality
			Incomplete bladder emptying
			Vesicoureteric reflux
		Investigation
		Management
		Medical measures for the prevention of UTI
		Follow-up of children with recurrent UTIs, renal scarring, or reflux
	Enuresis
		Primary nocturnal enuresis
		Daytime enuresis
		Secondary (onset) enuresis
	Proteinuria
		Nephrotic syndrome
			Steroid-sensitive nephrotic syndrome
				Management
				Prognosis
			Steroid-resistant nephrotic syndrome
			Congenital nephrotic syndrome
	Haematuria
		Acute nephritis
			Post-streptococcal and post-infectious nephritis
			Henoch–Schönlein purpura
				Clinical findings
			IgA nephropathy
			Familial nephritis
			Vasculitis
			Systemic lupus erythematosus (SLE)
	Hypertension
	Renal masses
	Renal calculi
	Renal tubular disorders
		Generalized proximal tubular dysfunction (Fanconi syndrome)
		Specific transport defects
	Acute kidney injury
		Management
			Prerenal failure
			Renal failure
			Postrenal failure
			Dialysis
	Haemolytic uraemic syndrome
	Chronic kidney disease
		Clinical features
		Management
			Diet
			Prevention of renal osteodystrophy
			Control of salt and water balance and acidosis
			Anaemia
			Hormonal abnormalities
		Dialysis and transplantation
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
20 Genital disorders
	Inguinoscrotal conditions
		Embryology
		Inguinal hernia
		Hydrocele
		Varicocele
		Undescended testis
			Investigations and management
		Acute inguinoscrotal conditions (‘the acute scrotum’)
			Torsion of the testis
			Torsion of appendix testis
			Other acute inguinoscrotal conditions
	Abnormalities of the penis
		The foreskin
			Non-retractile foreskin and phimosis
		Paraphimosis
		Circumcision
		Hypospadias
			Management
		Other conditions of the penis
	Genital disorders in girls
		Normal anatomy
		Vulvovaginitis/vaginal discharge
		Labial adhesions
		Other conditions
	Acknowledgements
	Further reading
21 Liver disorders
	Neonatal cholestasis
		Biliary atresia
			Investigations
			Treatment
		Choledochal cysts
		Neonatal hepatitis syndrome
			Alagille syndrome
				Progressive familial intrahepatic cholestasis
	Neonatal metabolic liver disease
		α1-Antitrypsin deficiency
		Galactosaemia
		Other causes
	Viral hepatitis
		Hepatitis A
		Hepatitis B
		Chronic hepatitis B
			Prevention
		Hepatitis C
		Hepatitis D virus
		Hepatitis E virus
		Seronegative (non-A to G) hepatitis
		Epstein–Barr virus
	Acute liver failure (fulminant hepatitis)
		Diagnosis
		Management
	Liver disease in older children
		Autoimmune hepatitis and sclerosing cholangitis
		Cystic fibrosis
		Wilson disease
		Fibropolycystic liver disease (ciliopathies)
		Non-alcoholic fatty liver disease
	Complications of chronic liver disease
		Nutrition
		Fat-soluble vitamins
		Pruritus
		Encephalopathy
		Cirrhosis and portal hypertension
		Oesophageal varices
		Ascites
		Spontaneous bacterial peritonitis
		Renal failure
	Liver transplantation
	Acknowledgements
	Further reading
22 Malignant disease
	Aetiology
	Clinical presentation
	Investigations
		Radiology
		Tumour marker studies
		Pathology
		Management
			Teenagers and young adults
	Treatment
		Chemotherapy
			High-dose therapy with stem cell rescue
		Targeted therapies
		Radiotherapy
		Surgery
	Supportive care and side-effects of treatment
		Infection from immunosuppression
		Bone marrow suppression
		Gastrointestinal damage, nausea and vomiting, and nutritional compromise
		Drug-specific side-effects
		Other supportive care issues
			Fertility preservation
			Venous access
			Psychosocial support
	Leukaemia
		Clinical presentation
		Investigations
		Management of acute lymphoblastic leukaemia
			Remission induction
			Intensification
			Central nervous system
			Continuing therapy
			Treatment of relapse
	Brain tumours
		Clinical features
		Investigations
		Management
		Late effects
	Lymphomas
		Hodgkin lymphoma
			Clinical features
			Investigations
			Management
		Non-Hodgkin lymphoma
			Investigations
			Management
		Burkitt lymphoma
	Neuroblastoma
		Clinical features
		Investigations
		Management
	Wilms tumour (nephroblastoma)
		Clinical features
		Investigations
		Management
	Soft tissue sarcomas
		Clinical features
		Investigations
		Management
	Bone tumours
		Clinical features
		Investigations
		Management
	Retinoblastoma
		Clinical features
		Investigations
		Treatment
	Kaposi sarcoma
	Rare tumours
		Liver tumours
		Germ cell tumours
		Langerhans cell histiocytosis
	Long-term survivors
	Palliative and end-of-life care
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
23 Haematological disorders
	Haemoglobin production in the fetus and newborn
	Haematological values at birth and the first few weeks of life
	Anaemia
		Anaemia due to impaired red cell production
		Diagnosis of ineffective erythropoiesis
			Iron deficiency
				Clinical features
				Diagnosis
				Management
				Treatment of iron deficiency with normal Hb
			Red cell aplasia
		Increased red cell destruction (haemolytic anaemia)
			Hereditary spherocytosis
				Clinical features
				Diagnosis
				Management
			Glucose-6-phosphate dehydrogenase deficiency
				Clinical manifestations
				Diagnosis
				Management
			Haemoglobinopathies
			Sickle cell disease
				Pathogenesis
				Clinical features
				Management
				Prognosis
				Prenatal diagnosis and screening
			Haemoglobin SC disease
			Sickle cell trait
			β-Thalassaemias
				Clinical features (Fig. 23.13)
				Management
				Prenatal diagnosis
			β-Thalassaemia trait
			α-Thalassaemias
		Anaemia in the newborn
			Reduced red blood cell production
			Increased red cell destruction (haemolytic anaemia)
			Blood loss
			Anaemia of prematurity
	Bone marrow failure syndromes
		Inherited aplastic anaemia
			Fanconi anaemia
			Shwachman–Diamond syndrome
	Bleeding disorders
		Normal haemostasis
			Diagnostic approach
		Haemophilia
			Clinical features
			Management
		von Willebrand disease
			Clinical features
			Management
		Acquired disorders of coagulation
		Thrombocytopenia
			Immune thrombocytopenia
				Clinical features
				Diagnosis
				Management
				Chronic ITP
		Disseminated intravascular coagulation
	Thrombosis in children
		Diagnosis
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
24 Child and adolescent mental health
	How to ask about emotional and behavioural problems
		How mental health problems evolve in childhood
		Biological/developmental factors
		Psychological factors
			Self-esteem
			Cognitive style
		Social factors
			Early relationships and attachment
	Adversities in the family
		Adversities outside the family
		Resilience
		Putting it together: the biopsychosocial formulation
	Specific paediatric mental health problems
		Problems of the preschool years
			Meal refusal
			Sleep-related problems
				Difficulty in settling to sleep at bedtime
				Waking at night
				Nightmares
				Night (sleep) terrors
			Disobedience, defiance, and tantrums
			Aggressive behaviour
			Autism spectrum disorder and attention deficit hyperactivity disorder
		Problems of middle childhood
			Nocturnal enuresis
				Explanation
				Star chart
				Enuresis alarm
				Desmopressin
				Self-help groups
			Faecal soiling
			Recurrent unexplained somatic symptoms/somatisation
			Tics
			Antisocial behaviour
			Anxiety
			School refusal
			Educational underachievement
		Problems of adolescence
			Cognitive style
			Anorexia nervosa and other eating disorders
				Management
				Medical aspects
				Prognosis
			Chronic fatigue syndrome
			Depression
			Deliberate self-harm
			How to ask about self-harm
			Drug misuse
			Psychosis
	Management of emotional and behavioural problems
		Cultural considerations
		Treatment
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
25 Dermatological disorders
	The newborn
		Bullous impetigo
		Melanocytic naevi (moles)
		Albinism
		Epidermolysis bullosa
		Collodion baby
	Rashes of infancy
		Nappy rashes
		Infantile seborrhoeic dermatitis
		Atopic eczema (atopic dermatitis)
			Diagnosis
			Clinical features
			Complications
			Management
				Avoiding irritants and precipitants
				Emollients
				Topical corticosteroids
				Immunomodulators
				Occlusive bandages
				Antibiotics, antiviral agents, and antihistamines
				Dietary elimination
				Psychosocial support
	Infections and infestations
		Viral infections
			Viral warts
			Molluscum contagiosum
		Fungal infections
			Ringworm
		Parasitic infestations
			Scabies
				Complications
				Treatment
			Pediculosis
	Other childhood skin disorders
		Psoriasis
		Pityriasis rosea
		Alopecia areata
		Granuloma annulare
		Acne vulgaris
	Rashes and systemic disease
		Urticaria
	Acknowledgements
	Further reading
		Website (Accessed November 2016)
26 Diabetes and endocrinology
	Diabetes mellitus
		Aetiology of type 1 diabetes
		Clinical features
		Diagnosis
		Initial management of type 1 diabetes
			Insulin
			Diet
			Blood glucose monitoring
			Acute complications
				Hypoglycaemia
				Diabetic ketoacidosis
		Long-term management
			Problems in diabetes control
			Management at school
			Puberty and adolescence
	Hypoglycaemia
		Causes
		Treatment
	Thyroid disorders
		Congenital hypothyroidism
		Acquired hypothyroidism
		Hyperthyroidism
	Parathyroid disorders
	Pituitary disorders
	Adrenal disorders
		Congenital adrenal hyperplasia
			Diagnosis
			Management
		Primary adrenal insufficiency (Addison disease)
			Presentation
			Diagnosis
			Management
		Cushing syndrome
	Disorders of sex development
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
27 Inborn errors of metabolism
	Overview
		Classification
		Frequency
		Presentation
		Genetics
		Investigations
		Management
	Newborn screening
	Metabolic disease and acid-base disturbance
		The anion gap
	Hyperammonaemia
	Hypoglycaemia
		Glycogen storage disorders
	Lysosomal storage disorders
		Mucopolysaccharidoses (MPS)
	Mitochondrial disease
	Lipid storage disorders
	Disorders of lipid metabolism
	Acknowledgements
	Further reading
		Websites (Accessed December 2016)
28 Musculoskeletal disorders
	Assessment of the musculoskeletal system
	Variations of normal posture
		Bow legs (genu varum)
		Knock-knees (genu valgum)
		Flat feet (pes planus)
		In-toeing
		Toe walking
	Abnormal posture
		Talipes equinovarus (clubfoot)
		Vertical talus
		Talipes calcaneovalgus
		Tarsal coalition
		Pes cavus
		Developmental dysplasia of the hip (DDH)
		Scoliosis
		Torticollis
	The painful limb, knee, and back
		Growing pains
		Hypermobility
		Complex regional pain syndromes
		Acute-onset limb pain
			Osteomyelitis
				Presentation
				Investigation
				Treatment
			Malignant disease
				Bone tumours
		The painful knee
			Osgood–Schlatter disease
			Chondromalacia patellae
			Osteochondritis dissecans (segmental avascular necrosis of the subchondral bone)
			Subluxation and dislocation of the patella
			Injuries
		Back pain
	Limp
		Transient synovitis (‘irritable hip’)
		Perthes disease
		Slipped capital femoral epiphysis
	Arthritis
		Reactive arthritis
		Septic arthritis
			Presentation
			Investigation
		Juvenile idiopathic arthritis (JIA)
			Complications
				Chronic anterior uveitis
				Flexion contractures of the joints
				Growth failure
				Constitutional problems
				Osteoporosis
				Amyloidosis
			Management
			Prognosis
		Henoch–Schönlein purpura
		Systemic lupus erythematosus (SLE)
		Juvenile dermatomyositis
	Genetic skeletal conditions
		Achondroplasia
		Thanatophoric dysplasia
		Cleidocranial dysostosis
		Arthrogryposis
		Osteogenesis imperfecta (brittle bone disease)
		Osteopetrosis (marble bone disease)
		Marfan syndrome
		Acknowledgements
	Further reading
		Websites (Accessed December 2016)
29 Neurological disorders
	Headache
		Primary headaches
			Tension-type headache
			Migraine
				Migraine without aura
				Migraine with aura
				Uncommon forms of migraine
		Secondary headaches
			Raised intracranial pressure and space-occupying lesions
			Medication overuse headache
		Other causes
		Management
			Rescue treatments
			Prophylactic treatments
			Psychosocial support
	Seizures
		Epileptic seizures
		Convulsions
		Epilepsies
		Acute symptomatic epileptic seizures
		Febrile seizures
		Paroxysmal disorders
	Epilepsies of childhood
		Diagnosis
		Investigation
			ECG
			EEG (electroencephalogram)
			Brain imaging
			Other investigations
		Management
			Antiepileptic drug therapy
			Other treatment options
		Advice and prognosis
		Status epilepticus
	Motor disorders
	Central motor disorders
		Cerebral palsy
	Peripheral motor disorders: the neuromuscular disorders
		Investigations
		Disorders of the anterior horn cell
			Spinal muscular atrophy
				Spinal muscular atrophy type 1 (Werdnig–Hoffmann disease)
		Peripheral neuropathies
			Charcot–Marie–Tooth disease (the hereditary motor sensory neuropathies)
			Guillain–Barré syndrome (acute post-infectious polyneuropathy)
			Bell palsy and facial nerve palsies
		Disorders of neuromuscular transmission
			Myasthenia gravis
				Juvenile myasthenia
				Congenital myasthenic syndromes
		Muscle disorders
			The muscular dystrophies
				Duchenne muscular dystrophy
					Management
				Becker muscular dystrophy
				Limb girdle muscular dystrophies
				Congenital muscular dystrophies
			Congenital myopathies
			Metabolic myopathies
			The inflammatory myopathies
				Benign acute myositis
				Dermatomyositis
			Myotonic disorders
				Dystrophia myotonica type I
		The hypotonic or ‘floppy” infant
	Ataxia
		Friedreich ataxia
		Ataxia telangiectasia
		Other hereditary cerebellar ataxias
	Cerebrovascular disease
		Intracranial haemorrhage
			Extradural haemorrhage
			Subdural haematoma
			Subarachnoid haemorrhage
		Stroke
	Microcephaly and macrocephaly
	Neural tube defects and hydrocephalus
		Neural tube defects
			Anencephaly
			Encephalocele
			Spina bifida occulta
			Meningocele and myelomeningocele
				Management
		Hydrocephalus
			Clinical features
	The neurocutaneous syndromes
		Neurofibromatosis
		Tuberous sclerosis
		Sturge–Weber syndrome
	Neurodegenerative disorders
		Adrenoleukodystrophy
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
		Systematic reviews
30 Adolescent medicine
	Communicating with adolescents
	Consent and confidentiality
		Consent
		Confidentiality
	Range of health problems
	Mortality
	Impact of chronic conditions
		Adherence
	Fatigue, headache, and other somatic symptoms
	Mental health problems
	Health-risk behaviour
	Sexual health
		Management of sexually transmitted infections
		Contraception
		Emergency contraception
		Teenage parenthood
	Health promotion
	Transition to adult services
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
31 Global child health
	Child mortality
		Where deaths occur
		Determining child mortality rates and health outcomes in different countries
		Why is child mortality so high?
		Reducing child mortality
	Improving neonatal survival
	Maternal health and obstetric care
		Saving newborn lives
	Improving the survival of children
		Infection
		Nutrition
		Trauma and road traffic injuries
	Mental health
	Coexisting multiple pathologies: a major threat to child survival
	Children affected by conflict
	Future developments
		Sustainable development goals
	Acknowledgements
	Further reading
		Websites (Accessed November 2016)
Appendix
	Growth charts
	Gestational age assessment of newborn infants
	Management action plan for asthma
	Blood pressure chart
	Peak flow chart
	Imaging in children
	Blood tests
		Taking blood from children
Index
	A
	B
	C
	D
	E
	F
	G
	H
	I
	J
	K
	L
	M
	N
	O
	P
	Q
	R
	S
	T
	U
	V
	W
	X
	Y
	Z