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Chapter Twelve: Managing Chronic Conditions. Categories of Chronic Diseases. Genetic/inherited Congenital Metabolic Autoimmune Degenerative Infectious. Acute vs. Chronic Conditions. Acute conditions Sudden onset and prompt resolution Chronic conditions
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Categories of Chronic Diseases • Genetic/inherited • Congenital • Metabolic • Autoimmune • Degenerative • Infectious
Acute vs. Chronic Conditions • Acute conditions • Sudden onset and prompt resolution • Chronic conditions • Develop slowly and persist for an extended period of time • Many of the chronic conditions discussed in this chapter are difficult to prevent
Genetic/Inherited Conditions • Abnormal genes transmitted from either parent at conception • Abnormal genetic materials formed by mutation at an early stage of cell replication • Abnormal number of chromosomes • More or fewer than 46
Abnormal Number of Sex Chromosomes • Klinefelter’s syndrome • Turner’s syndrome
Klinefelter’s Syndrome • 1 in 1,000 male births • Due to abnormal sex chromosomes present (44XXY) = 47 chromosomes • Characteristics at puberty: • Tall, thin, gynecomastia, underdeveloped secondary sex characteristics • Infertility, learning impairment
Turner’s Syndrome • 1 in 5,000 female births • Altered chromosome number (44XO) • “O” is the absence of a second X chromosome • Equivalent version of Klinefelter’s syndrome (infertility) • Diminished secondary sex characteristics
Inherited Genetic Mutations • Cystic fibrosis • Sickle-cell trait and sickle-cell disease
Cystic Fibrosis • 1 in 2,000 live births • Disruption of exocrine glands due to absence of a protein • Symptoms: Respiratory and digestive symptoms • Management: Medications, diet (no cure) • Diagnosis/prevention: Genetic tests
Sickle Cell Trait/Sickle Cell Disease • 8% of African Americans carry recessive gene for sickle-cell trait • Red blood cells cannot pass through blood capillaries (sickle-shaped RBCs) • Symptoms: Impaired lung function, heart failure, infections, bone changes • Management: Drug therapy, stem cell transplant • Diagnosis: Blood test • Prevention: Screening for the recessive gene
Sex-Chromosome-Linked Inherited Genetic Mutations • Color vision deficiency • Fragile X syndrome
Congenital Abnormalities • Present at birth • No involvement of abnormal genetic materials • Multiple potential causes resulting in inappropriate changes to tissues during embryonic development: • Infections • Drug use • Many environmental factors
Common Congenital Abnormalities • Cleft palate/cleft lip • Structures of face and lips separate • 1 in 800 births • Patent foramen ovale (PFO) • Foramen fails to close completely in the heart, resulting in a heart murmur • Scoliosis • Lateral curvature of the spine (S-shaped)
Metabolic Disorders • Body’s inability to control chemical processes that regulate the building up (anabolism) and tearing down (catabolism) of tissue • Examples: • Diabetes mellitus (type 2) • Diabetes mellitus (type 1) • Hypoglycemia
Diabetes Mellitus (Type 1) • Pancreas produces no insulin at all • Symptoms (develop rapidly): Weakness, thirst, hunger, frequent urination • Management: Insulin must be obtained by injections or pump • Diagnosis: Urine and blood tests
Diabetes Mellitus (Type 2) • Body is insensitive to insulin • Symptoms (develop gradually) • Thirst • Hyperglycemia • Frequent urination • Management • Dietary modification • Exercise • Drug therapy • Diagnosis: Urine and blood tests
Hypoglycemia • Abnormally low levels of blood sugar • Reactive hypoglycemia • Hypersensitivity to sugar due to excessive insulin products (rare) • Functional hypoglycemia • Vague symptoms; now less frequently seen • Symptoms • Low energy, headaches, anxiety • Management • Small meals of complex carbohydrates
Autoimmune/Hypersensitivity Disorders Functional and structural breakdown caused by the immune system’s failure to recognize the body as “self”
Degenerative Diseases Functional and structural breakdown of the body that generally appear later in life