Contents
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Introduction Introduction
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Alpha1-antitrypsin deficiency Alpha1-antitrypsin deficiency
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Introduction Introduction
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Other family members Other family members
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Long-term complications Long-term complications
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Support groups Support groups
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Autism and autism spectrum disorders Autism and autism spectrum disorders
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Introduction Introduction
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Classical autism Classical autism
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Differential diagnosis Differential diagnosis
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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Potential long-term complications Potential long-term complications
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Support group Support group
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Autosomal dominant polycystic kidney disease (ADPKD) Autosomal dominant polycystic kidney disease (ADPKD)
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Introduction Introduction
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics if requested Prenatal diagnosis— refer to Clinical Genetics if requested
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Predictive testing— refer to Clinical Genetics/Nephrology Predictive testing— refer to Clinical Genetics/Nephrology
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Other family members Other family members
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Differential diagnosis Differential diagnosis
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Natural history and management Natural history and management
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Potential long-term complications Potential long-term complications
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Support group Support group
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Cystic fibrosis (CF) Cystic fibrosis (CF)
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Introduction Introduction
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Genetics Genetics
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Inheritance and recurrence risk ( see Fig. ) Inheritance and recurrence risk ( see Fig. )
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Variability and penetrance Variability and penetrance
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to CF paediatrician/Clinical Genetics Predictive testing— refer to CF paediatrician/Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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Potential long-term complications Potential long-term complications
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Surveillance Surveillance
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Pregnancy in women with CF Pregnancy in women with CF
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Pre-pregnancy counselling Pre-pregnancy counselling
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Neonatal screening ( see Fig. ) Neonatal screening ( see Fig. )
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Support group Support group
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Duchenne and Becker muscular dystrophy (DMD and BMD) Duchenne and Becker muscular dystrophy (DMD and BMD)
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Introduction Introduction
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Clinical presentation Clinical presentation
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Female carriers Female carriers
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Newborn males Newborn males
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Becker muscular dystrophy Becker muscular dystrophy
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Other family members: carrier testing and assessment of risk of carrier status in female relatives— refer to Clinical Genetics Other family members: carrier testing and assessment of risk of carrier status in female relatives— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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Management of long-term complications in DMD Management of long-term complications in DMD
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Loss of ambulation Loss of ambulation
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Scoliosis Scoliosis
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Nocturnal hypoventilation Nocturnal hypoventilation
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Cardiac problems Cardiac problems
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Cognitive impairment Cognitive impairment
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Management of long-term complications in BMD Management of long-term complications in BMD
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Impaired mobility Impaired mobility
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Cardiac complications Cardiac complications
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Surveillance Surveillance
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Gene therapy Gene therapy
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Support groups Support groups
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Ehlers–Danlos syndrome (EDS) Ehlers–Danlos syndrome (EDS)
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Introduction Introduction
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EDS hypermobility type (type III) EDS hypermobility type (type III)
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Vascular EDS (type IV)— refer to Clinical Genetics Vascular EDS (type IV)— refer to Clinical Genetics
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Differential diagnoses Differential diagnoses
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis and predictive testing— refer to Clinical Genetics Prenatal diagnosis and predictive testing— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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Potential long-term complications Potential long-term complications
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Pregnancy Pregnancy
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Early arthritis Early arthritis
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Support groups Support groups
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Fragile X syndrome (FRAX) Fragile X syndrome (FRAX)
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Introduction Introduction
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Clinical presentation Clinical presentation
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Full mutation in males Full mutation in males
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Full mutation in females Full mutation in females
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Pre-mutation alleles Pre-mutation alleles
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Genetic advice Genetic advice
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Daughters of mothers carrying a full or pre-mutation Daughters of mothers carrying a full or pre-mutation
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Other family members Other family members
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Investigations that will be performed in secondary care Investigations that will be performed in secondary care
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Potential long-term complications in affected individuals Potential long-term complications in affected individuals
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Potential long-term complications in pre-mutation carriers Potential long-term complications in pre-mutation carriers
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Support groups Support groups
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Haemochromatosis Haemochromatosis
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Introduction Introduction
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis Prenatal diagnosis
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Predictive testing Predictive testing
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Other family members Other family members
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Screening in primary care Screening in primary care
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Whom not to screen! Whom not to screen!
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Investigations in secondary care Investigations in secondary care
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Potential long-term complications Potential long-term complications
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Related illness Related illness
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Juvenile haemochromatosis (type 2) Juvenile haemochromatosis (type 2)
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Support groups Support groups
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Haemoglobinopathies Haemoglobinopathies
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Introduction Introduction
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Hb electrophoresis Hb electrophoresis
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Hereditary persistence of fetal hemoglobin (HPFH) Hereditary persistence of fetal hemoglobin (HPFH)
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Structural variants Structural variants
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Clinical presentation of structural variants Clinical presentation of structural variants
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Sickle cell anaemia (genotype βS/βS) Sickle cell anaemia (genotype βS/βS)
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Sickle cell trait (βS/β) Sickle cell trait (βS/β)
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Haemoglobin SC disease (αS/αC) Haemoglobin SC disease (αS/αC)
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Haemoglobin C disease (βC/βC) Haemoglobin C disease (βC/βC)
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Clinical presentations of thalassaemias Clinical presentations of thalassaemias
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β-thalassaemias β-thalassaemias
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Homozygous β-thalassaemia (β°/β°, β°/β+, β+/β+)—‘β-thalassaemia disease’ Homozygous β-thalassaemia (β°/β°, β°/β+, β+/β+)—‘β-thalassaemia disease’
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Heterozygous β°-thalassaemia (β/β°) and heterozygous β+-thalassaemia (β/β+)—‘β-thalassaemia trait’ Heterozygous β°-thalassaemia (β/β°) and heterozygous β+-thalassaemia (β/β+)—‘β-thalassaemia trait’
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α-thalassaemias α-thalassaemias
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Clinical presentations of thalassaemias with variant haemoglobins Clinical presentations of thalassaemias with variant haemoglobins
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Sickle cell β°-thalassaemia (βS/β°) or sickle cell β+-thalassaemia (βS/β+)—‘sickle/thalassaemia disease’ Sickle cell β°-thalassaemia (βS/β°) or sickle cell β+-thalassaemia (βS/β+)—‘sickle/thalassaemia disease’
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Sickle cell disease and other structural variants Sickle cell disease and other structural variants
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Thalassaemias Thalassaemias
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Carrier testing— refer to Haematology Carrier testing— refer to Haematology
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Other family members Other family members
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Investigations in secondary care Investigations in secondary care
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Neonatal screening Neonatal screening
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Support groups Support groups
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Haemophilia and other inherited coagulation disorders Haemophilia and other inherited coagulation disorders
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Introduction Introduction
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Factor VIII—haemophilia A Factor VIII—haemophilia A
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Factor IX—haemophilia B Factor IX—haemophilia B
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Differential diagnoses Differential diagnoses
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Von Willebrand disease (VWD) Von Willebrand disease (VWD)
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Other coagulation factor deficiencies Other coagulation factor deficiencies
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Genetics Genetics
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X-linked recessive X-linked recessive
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Inheritance and recurrence risk Inheritance and recurrence risk
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Factor VIII deficiency Factor VIII deficiency
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Variability and penetrance Variability and penetrance
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics/Haemophilia centre Predictive testing— refer to Clinical Genetics/Haemophilia centre
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Investigations and management in secondary care Investigations and management in secondary care
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Investigations Investigations
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Management Management
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Potential long-term complications Potential long-term complications
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Complications of the disorder Complications of the disorder
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Complications related to treatment Complications related to treatment
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Pregnancy surveillance in carriers Pregnancy surveillance in carriers
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Support groups Support groups
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Hereditary motor sensory neuropathy (HMSN/CMT) Hereditary motor sensory neuropathy (HMSN/CMT)
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Introduction Introduction
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Differential diagnosis Differential diagnosis
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Genetic advice Genetic advice
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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Potential long-term complications Potential long-term complications
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Support group Support group
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Huntington disease (HD) Huntington disease (HD)
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Introduction Introduction
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Clinical presentation Clinical presentation
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Juvenile HD Juvenile HD
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Differential diagnoses Differential diagnoses
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Conditions associated with chorea Conditions associated with chorea
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Disorders of the basal ganglia Disorders of the basal ganglia
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Conditions associated with dementia Conditions associated with dementia
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Psychiatric conditions Psychiatric conditions
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Investigations in secondary care Investigations in secondary care
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An individual with suspected HD but no family history An individual with suspected HD but no family history
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In the case of a clinically unaffected ‘at-risk’ individual In the case of a clinically unaffected ‘at-risk’ individual
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Management (of at-risk individuals and known gene carriers) Management (of at-risk individuals and known gene carriers)
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Potential long-term complications Potential long-term complications
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Surveillance Surveillance
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Treatment Treatment
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Support groups Support groups
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Marfan syndrome (MFS) Marfan syndrome (MFS)
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Introduction Introduction
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Differential diagnoses Differential diagnoses
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Ehlers–Danlos syndrome Ehlers–Danlos syndrome
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Loeys-Dietz syndrome Loeys-Dietz syndrome
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics/Cardiologist with special interest in inherited cardiac disease Other family members— refer to Clinical Genetics/Cardiologist with special interest in inherited cardiac disease
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Investigations in secondary care Investigations in secondary care
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Management in secondary care Management in secondary care
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Lifestyle advice Lifestyle advice
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Pregnancy Pregnancy
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Support groups Support groups
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Myotonic dystrophy (MD) Myotonic dystrophy (MD)
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Introduction Introduction
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Potential long-term complications Potential long-term complications
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Anaesthetics Anaesthetics
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Other potential complications Other potential complications
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Pregnancy Pregnancy
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Support group Support group
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Neurofibromatosis type 1 (NF1) Neurofibromatosis type 1 (NF1)
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Introduction Introduction
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Diagnostic criteria for NF1 (NIH 1988) Diagnostic criteria for NF1 (NIH 1988)
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Differential diagnoses Differential diagnoses
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Genetics Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics if requested Prenatal diagnosis— refer to Clinical Genetics if requested
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Other family members— refer to Clinical Genetics Other family members— refer to Clinical Genetics
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Natural history Natural history
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Potential long-term complications Potential long-term complications
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Toddler or early childhood: optic nerve gliomas Toddler or early childhood: optic nerve gliomas
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In 20-to 30-yr-olds: malignant peripheral nerve sheath tumours (MPNST) In 20-to 30-yr-olds: malignant peripheral nerve sheath tumours (MPNST)
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Support groups Support groups
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Noonan syndrome (NS) Noonan syndrome (NS)
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Other diagnoses/conditions to consider Other diagnoses/conditions to consider
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Genetic advice— refer to Genetics Genetic advice— refer to Genetics
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Investigation in secondary care Investigation in secondary care
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Natural history Natural history
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Support group Support group
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Retinitis pigmentosa (RP) Retinitis pigmentosa (RP)
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Differential diagnoses Differential diagnoses
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Genetic advice Genetic advice
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing of apparently unaffected individuals, other family members— refer to Clinical Genetics Predictive testing of apparently unaffected individuals, other family members— refer to Clinical Genetics
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Investigations done in secondary care Investigations done in secondary care
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Support groups Support groups
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Spinal muscular atrophy (SMA) Spinal muscular atrophy (SMA)
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Natural history and management Natural history and management
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Type I SMA Type I SMA
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Type II SMA Type II SMA
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Type III SMA Type III SMA
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Genetic advice Genetic advice
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Inheritance and recurrence risk Inheritance and recurrence risk
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Variability and penetrance Variability and penetrance
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Prenatal diagnosis— refer to Genetics Prenatal diagnosis— refer to Genetics
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Carrier testing— refer to Genetics Carrier testing— refer to Genetics
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Other family members Other family members
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Support group Support group
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Stickler syndrome Stickler syndrome
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Proposed diagnostic criteria for Stickler syndrome (after Snead and Yates 1999) Proposed diagnostic criteria for Stickler syndrome (after Snead and Yates 1999)
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Differential diagnoses Differential diagnoses
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Genetic advice Genetic advice
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Inheritance and recurrence risk Inheritance and recurrence risk
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Predictive testing— refer to Clinical Genetics Predictive testing— refer to Clinical Genetics
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Other family members Other family members
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Investigation in secondary care Investigation in secondary care
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Natural history and management Natural history and management
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Potential long-term complications Potential long-term complications
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Surveillance Surveillance
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Support group Support group
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Tuberous sclerosis (TSC) Tuberous sclerosis (TSC)
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Natural history Natural history
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Genetic advice Genetic advice
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Inheritance and recurrence risk— refer to Clinical Genetics Inheritance and recurrence risk— refer to Clinical Genetics
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Affected parent Affected parent
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Parents unaffected Parents unaffected
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Apparently unaffected siblings Apparently unaffected siblings
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Prenatal diagnosis— refer to Clinical Genetics Prenatal diagnosis— refer to Clinical Genetics
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Investigation in secondary care Investigation in secondary care
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Potential long-term complications Potential long-term complications
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Support groups Support groups
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Cite
Extract
Introduction
While individual genetic disorders are rare, collectively they are not uncommon. Indeed, since genetic conditions are often life-long disorders they account for a significant burden of disease, especially amongst younger members of the population. Most general practices will have patients and/or families who are affected by some of the conditions outlined in this chapter.
Primary care can play an important role in targeted surveillance for genetic conditions such as myotonic dystrophy or neurofibromatosis type 1. In this chapter we have outlined the surveillance required for individual disorders and indicated when this can be provided in primary care.
If you have additional queries, the following resources may be helpful:
...
Alpha1-antitrypsin deficiency
Introduction
Alpha1-antitrypsin is a proteinase inhibitor that protects the connective tissue of the lungs from the elastase released by leucocytes. Alpha1-antitrypsin deficiency is a common autosomal recessive (AR) disorder (1/1600–1/1800) characterized by a predisposition to emphysema and cirrhosis. Liver damage arises not from deficiency of the protease inhibitor, but from pathological polymerization of the variant alpha1-antitrypsin before its secretion from hepatocytes.
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