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Endocrinology, Diabetes & Inborn Errors of Metabolism

Endocrinology, Diabetes & Inborn Errors of Metabolism

Will Carroll

(2016)

Additional Information

Book Details

Abstract

Endocrinology, Diabetes & Inborn Errors of Metabolism is a new e-book in a collection of subject-themed e-books containing relevant key articles from Paediatrics & Child Health. The e-books provide a perfect source of revision for post-graduate exams in paediatrics and portfolio material for life-long learning.

As well as mapping to the requirements of post-graduate training in paediatrics, these e-books also enable anyone with a short-term interest in a specific area to buy individual articles at a price-point that will give affordable access to all readers (from medical students to GPs and practitioners in related areas). The quality of user experience on mobiles, tablets and laptops will be an added bonus for learning on the move.

About the journal

The parent journal (http://www.paediatricsandchildhealthjournal.co.uk/) is a rolling, continuously updated review of clinical medicine over a 4-year cycle covering all the important topics for post-graduate exams in paediatrics. The journal’s articles are refreshed, updated, augmented or replaced as appropriate each time the subject is due for revision to provide a concise overview of knowledge and practice core to the curriculum. Each article is written by invited experts and overseen by the relevant subject specialist on the Board. A trainee representative on the Board ensures relevance and accessibility for exam candidates.

Table of Contents

Section Title Page Action Price
Front Cover Cover
Endocrinology, Diabetes and Inborn\rErrors of Metabolism: Prepare for\rthe MRCPCH Fm-1
Copyright Page Fm-2
PREFACE Fm-4
Table of Contents Fm-5
Section 1: Endocrinology 1
Understanding\rhypopituitarism 1
Definition 1
Epidemiology 1
Physiology 1
Aetiology 1
Course of the disease 2
Clinical presentation 2
Diagnosis 3
Water deprivation test 5
GnRH test (LHRH test) and HCG test 5
Management 5
Clinical care 6
Prognosis and explanation to patient 6
FURTHER READING 6
Congenital hypothyroidism\r— what’s new? 8
Definitions 8
Epidemiology 8
Aetiology — primary CHT 8
The role of iodine 9
Aetiology — central hypothyroidism 9
Transient hypothyroidism 9
Diagnosis 9
Newborn screening 9
Which babies may be eligible for repeat testing? 10
What is an abnormal screening result? 10
Further investigations 10
Management 11
Which formulation? 11
Optimal dosage 11
What threshold warrants intervention? 12
Monitoring 12
Trial off treatment 12
Prognosis 12
FURTHER READING 12
Metabolic syndrome\runravelling or unravelled? 14
Introduction 14
Epidemiology of metabolic syndrome 14
Pathophysiology of metabolic syndrome 15
Clinical assessment 17
Management 17
Conclusion 18
FURTHER READING 18
Delayed puberty 20
What constitutes late or delayed puberty 20
When might delayed puberty be expected? 20
The history 22
What should be done when delayed puberty is unexpected? 22
The next steps 22
Treatment options 23
Conclusion: Cardinal points in the management of delayed\rpuberty 23
FURTHER READING 23
Polycystic ovarian syndrome\rin adolescent girls 25
Introduction 25
Clinical features and diagnosis 25
Investigation 26
Treatment 27
Non-medical treatment 28
Medical treatment 28
Conclusions 29
FURTHER READING 30
Understanding rickets 31
History 31
Metabolism of Vitamin D and phosphate 31
Classification of rickets 31
Clinical manifestations 32
Investigations 32
Imaging studies 33
Vitamin D deficiency rickets 34
Calcium deficiency rickets 35
25-hydroxylase deficiency 35
Vitamin D dependent rickets type I 35
Vitamin D dependent rickets type II 35
Hypophosphatemic rickets 35
Differential diagnosis 36
Summary 36
FURTHER READING 36
Section 2: Diabetes Mellitus 38
Clinical services for children\rwith Diabetes Mellitus 38
Introduction 38
Presentation 39
Clinical management 39
Assessing diabetes control 39
Long term outcomes of childhood diabetes 39
Diabetes control in the UK, Europe and worldwide 39
Improving outcomes in the UK 40
Insulin therapy 40
Addressing resource issues 40
Diabetes networks 41
Diabetes Audit and National Registers 41
Training and competence 42
Summary 42
FURTHER READING 42
The epidemiology of childhood diabetes 44
Introduction 44
The type 1 diabetes prodrome 44
Determining the incidence of T1D 45
Geographical variation 45
Variation with age and sex 45
Seasonal effects 45
Changes over time 45
Conclusions 47
FURTHER READING 48
Diagnosis and management\rof hypoglycaemia beyond\rthe neonatal period 49
Introduction 49
Definition 49
Mechanisms of glucose homeostasis 49
Symptoms of hypoglycaemia 50
Causes of hypoglycaemia (Figure 1) 50
Recognition and management of hypoglycaemia 53
FURTHER READING 54
Insulin pump therapy 55
Introduction 55
Basic principles of insulin therapy 55
Who is eligible for insulin pump therapy? 55
Practical points for starting insulin pump therapy 57
High blood glucose concentrations 58
Sick days 58
Low blood glucose concentrations 59
Efffectiveness of therapy 59
Conclusions 59
FURTHER READING 59
Type 2 diabetes mellitus:\rincidence, management\rand prognosis 60
Introduction, definition and epidemiology 60
Pathology and course of the disease 60
Diagnosis including history and investigation 61
Investigations 62
Management 62
Follow-up 63
Prevention 63
FURTHER READING 63
Improving the long-term\routlook for children with\rdiabetes mellitus 65
Introduction 65
Epidemiology of diabetes 65
Life expectancy 65
Screening for complications 65
Complications (see Table 1) 66
How to improve outlook 68
Potential future therapeutic approaches for diabetes 70
Conclusions 70
FURTHER READING 70
Section 3: Inborn Errors of M+A10etabolism 71
Acute presentations\rof inherited metabolic\rdisorders: investigation\rand initial management 71
Introduction 71
History 71
Modes of presentation 71
Management 74
Conclusions 76
FURTHER READING 76
Newborn screening for\rinborn errors of metabolism 77
Early history of newborn screening 77
Principles of newborn screening 77
The screening test 79
The UK newborn screening programme 79
The future of newborn screening 81
FURTHER READING 81
Phenylketonuria 82
Terminology 82
Natural history 82
Detection 82
Epidemiology 83
Biochemistry and genetics of PKU 83
Treatment 83
Monitoring of treatment 83
Nutritional issues in PKU 84
Dietary adherence 84
Duration of diet 84
New treatments for PKU 84
Outcome of PKU 85
Maternal PKU 85
Summary 85
FURTHER READING 85
Galactosaemia: diagnosis,\rmanagement and long-term\routcome 87
Definition 87
Incidence/genetics 87
Pathology 87
The clinical symptoms of acute toxicity syndrome of classical\rgalactosaemia 88
Differential diagnosis and confirmation of the diagnosis 88
Management 88
Chronic manifestations of galactosaemia 89
Treatment 91
Follow up 91
Prevention 91
FURTHER READING 91