Genetic disorder

1. Genetic disorder Integumentary System

2. Integumentary System disorders • Is a disorder affecting the skin • Skin is largest organ in the body

3. Albinism • A genetic disorder in which there is complete or partial congenital absence of pigment in the skin, hair, and eyes. • Is found in all races • The most common type is recessively inherited oculocutaneous albinism

4. 2 broad categories • Oculocutaneous (OCA) (absence in pigments in hair, eyes and skin) • Tyrosinase (+) • Tyrosinase (-) • Ocular (absence of pigments within the eyes) • Subtypes • Autosomal Recessive • Sex-linked Recessive

5. Albinism • Incidence • Rare Disorder • 1 in 40,000 (Oculocutaneous) • 1 in 15,000 males (ocular) • Less common in females X-linked; most females are carriers • Risk Factors • Permanent poor vision • Heightened risk of skin cancer • Etiology • Caused by the inheritance of homozygous recessive allele

6. Pathophysiology • Pale or pink skin • White or yellow hair • Light colored or sometimes pink eyes Albinism • Ocular Problems: • - Photophobia ( extreme sensitivity to light) • Fovea Hypoplasia (underdeveloped macula) • Optic nerve hypoplasia (underdeveloped optic nerve) • Strabismus (eyes are not properly aligned with each other) • Nystagmus (irregular rapid movement of the eyes back and forth, or in circular motion Manifestations Lack Tyrosinase

7. Diagnosis of Albinism 4 types of OCA - Oculocutaneous (OCA 1)- caused by mutation of tyrosine gene • Oculocutaneous (OCA 2)- caused by mutation of P gene - Oculocutaneous (OCA 3)- caused by mutation of the tyrosine- related protein-1 (Tyrp1) gene • Oculocutaneous (OCA 4) - caused by mutation of the membrane-associated transporter protein (MATP) gene - Consult an ophthalmologist

8. Prevention • Cannot be prevented • Incurable • Avoid sunlight Cover up when going outdoors Use Sun Protection Factor,(SPF) 30 or greater

9. Treatment • Reduced their risk for skin cancer through protection from solar radiation and screening for malignant changes. • Efforts to reduce the visual impact are important, such as glasses, preferential setting in classrooms and large- print books.

10. Nursing diagnosis • Ineffective Coping related to chronic condition • Body Image Disturbance related to pale or white skin brought about by absence of melanin pigment • Risk for Activity Intolerance: Poor Vision related to alterations in nerve connections between the retina and brain brought about by absence of melanin pigment • Risk for impaired skin integrity related to absence of melanin pigment

11. Ichthyosis vulgaris • also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex“ or a fish scale disease • is a skin disorder causing dry, scaly skin. • It is the most common form of ichthyosisaffecting around 1 in 250 people. • For this reason it is known as common ichthyosis. • It is usually an autosomal dominant inherited disease

12. presentation • Not present at birth but generally develop between 3 months and 5 years of age • Often improve with age but grow more severe in old age. • Not life threatening • Mild cases • scaly patches on the shins, fine white scales on the forearms and upper arms, and rough palms

13. Severe cases • build up of scales everywhere • Less affected areas: • areas of the body that have a concentration of sweat glands • Areas where the skin rubs against each other • armpits, the groin • "folded" areas of the elbow and knees • When the build up of scales is bad, the person with a severe case suffers from "prickly itch" when he or she needs to sweat but cannot because of the scales.

14. causes • autosomal dominant pattern, • meaning that only one parent needs to possess the mutated gene in order to pass it onto his or her child. • caused by mutations to the gene encoding profilaggrin • a protein which is converted to filaggrin which plays a vital role in the structure of the skin.

15. Pathophysiology Ichthyosis Vulgaris epidermis Absence or reduced profillagrin Abnormal conversion of filaggrin manifestation Inability to produce free amino acids Scaly skin/ fish skin Skin prone to bleeding Abnormal desquamation

16. diagnosis • A dermatologist —a doctor specializing in skin disorders can typically diagnose ichthyosis vulgaris by sight. • Your doctor will ask you about; • family history of skin diseases, • the age you first experienced symptoms, • whether you suffer from any other skin disorders

17. treatment • Various topical treatments are available to "exfoliate" the scales. • These include lotions that contain alpha-hydroxy acids.

18. coping • Living with ichthyosis vulgaris and similar skin conditions is difficult at times, especially for children. • If the cosmetic impact of the condition becomes too much, you may want to attend a support group or see a mental health professional. • These therapies can help you to regain your confidence and deal with any emotional difficulties you may encounter.

20. Nursing diagnosis • Impaired Skin Integrity related to scaly skin • Risk for Self-care Deficit related to bleeding tendencies • Body Image Disturbance related to body skin appearance • Risk for Ineffective Coping related to chronic condition

21. Respiratory system

22. Cystic fibrosis • A genetic condition causing poor clearance of mucus from the bronchi. • The accumulated mucus results in repeated lung infections. • also known as mucoviscidosis • is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. • It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.

23. Genetic explanation • Mutation in the CFTR gene on chromosome 7 • Encodes a protein known as the cystic fibrosis transmembrane regulator • Abnormal proteins leads to disruption of chloride on the cells. Remember: CFTR= C- cystic, F- fibrosis, T- transmembrane, R- regulator - Genes mutated in cystic fibrosis

24. pathophysiology CFTR gene (Cystic Fibrosis Transmembrane Regulator) Creates several mutations Malfunction of CFTR protein Lungs Pancreas Intestine Ions cannot flow out of the cell Blockage of channels Build up thick mucus Increase accumulation of digestive enzymes Blockage by thick feces

25. Risks factors • Repeated serious lung infections that can damage the lungs • Abnormally excessive mucus • Severe breathing patterns • Brought about by permanent damage of the lungs • Vitamin deficiency and malnutrition • impaired absorption of fats and proteins as a result from blockage of thick , sticky mucus on the tubes and duct in the pancreas thereby causing pancreatic enzyme not able to reach the small intestine. • Salty Sweat • Due to defect in the chloride channels

26. DAIGNOSING AND MONITORING • Newborn Screening • The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen. • Sweat testing • Infants with an abnormal newborn screen need a sweat test to confirm the CF diagnosis. In many cases, a parent makes the diagnosis because the infant tastes salty. • The resultant sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of sodium and chloride. People with CF have increased amounts of sodium and chloride in their sweat • Genetic testing • Trypsinogen levels can be increased in individuals who have a single mutated copy of the CFTR gene (carriers) or, in rare instances, in individuals with two normal copies of the CFTR gene.

27. prenatal • Couples who are pregnant or planning a pregnancy can have themselves tested for the CFTR gene mutations to determine the risk that their child will be born with cystic fibrosis. • Testing is typically performed first on one or both parents and, if the risk of CF is high, testing on the fetus is performed. • During pregnancy, testing can be performed • the placenta (chorionic villus sampling) • fluid around the fetus (amniocentesis).

28. management • These can't cure lung disease or completely ease breathing problems. • But it can help function better in daily life.

29. Chronic and acute infections. • Intravenous, inhaled, and oral antibiotics Inhaled therapy with antibiotics such as tobramycin, colistin, and aztreonam is often given for months at a time to improve lung function by impeding the growth of colonized bacteria. Used to alter and clear the thickened mucus • Mechanical devices and inhalation medications

30. Goal QUALITY OF LIFE

31. Nursing diagnosis • Ineffective Airway Clearance related to increase mucus secretions • Ineffective Breathing Pattern related to increase mucus secretions secondary to lung inflammation • Impaired Gas Exchange related to increase mucus secretions brought about by permanent damage of the lungs • Imbalanced Nutrition: Less than body requirement related to vitamin deficiency • Activity Intolerance related to shortness of breath • Ineffective Coping related to chronic condition • Hopelessness related to chronic condition

32. Genetic Cardiovascular disorder Hypertrophic Cardiomyopathy

33. Hypertrophic Cardiomyopathy • A primary disease of the myocardium (the muscle of the heart) • Portion of myocardium is hypertrophied (thickened) without any obvious cause. • Leading cause of sudden cardiac death in young athletes. • Sudden unexpected cardiac death in any age group and a cause of disabling cardiac symptoms. • Younger people are likely to have a more severe for of hyperthropic cardiomyopathy. • Frequently asymptomatic until sudden cardiac death. (routine screening is necessary)

34. Prevalence • European, American, and Japanese populations, HCM appears in all racial groups. • The prevalence of HCM is about 0.2% to 0.5% of the general population

35. Signs and symptoms • Asymptomatic or mildly asymptomatic • Dyspnea • Is largely due to increased stiffness of the left ventricle, which impairs filling of the ventricles and leads to elevated pressure in the left ventricle and left atrium. • Chest pain (angina) • Uncomfortable awareness of the heart beat • Lightheadedness • Fatigue • Fainting (called syncope) • Sudden cardiac death

37. Major risk factors • Prior history of cardiac arrest or ventricular fibrillation • Spontaneous sustained ventricular tachycardia • The arrhythmia lasts ≥30 seconds or causes hemodynamic collapse in <30 seconds • Family history of premature sudden death • Unexplained syncope • LV thickness greater than or equal to 30 mm • Abnormal blood pressure • Nonsustained ventricular tachycardia(NSVT) • is defined as 3 or more consecutive beats at a rate of > beats/min and lasting < 30 s

38. Genetic explanation • Autosomal dominant trait • Children of a single HCM parent have 50% chance of inheriting the disease-causing mutation • Mutations in one of a number of genes that encode for one of the sarcomere proteins. (1 of 9 sarcomeric genes) • Approximately 45% of these mutations occur in the β myosin heavy chain gene on chromosome 14 q11.2-3 • 35% involve the cardiac myosin binding protein C gene.

39. Individuals with no family history • The cause of disease is due to de novo mutation of the gene that produces the β-myosin heavy chain. • An insertion/ deletion polymorphism in the gene encoding for angiotensin converting enzyme (ACE) alters the clinical phenotype of the disease. • The D/D (deletion/deletion) genotype of ACE is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes

40. pathophysiology • A complex type of heart disease that affects the heart muscle • Thickening of the heart muscle (myocardium) • Occurs at the septum • Thickened septum cause a narrowing that can block or reduce the blood flow from the left ventricle to the aorta = “outflow tract obstruction” • The ventricles must pump harder to overcome the narrowing or blockage • Called as hyperthrophic obstructive caridomyopathy (HOCM).

41. Stiffness in the left ventricle • Occurs as a result of cellular changes that occur in the heart muscle when it thickens. • The left ventricle is unable to relax normally and fill with blood. • Less blood at the end of filling – less oxygen- rich blood pumped to the organs and muscles. • The stiffness in the left ventricle causes pressure to increase inside the heart and may lead to mitral valve changes. • Mitral Valve Changes • The narrowing of the left ventricular outflow tract disrupts the proper function of the mitral valve • outflow obstruction • Increased pressure in the left ventricle.

42. Mitral valve changes

43. Cellular changes • or changes in the cells of the heart muscle, occur with HCM. • Through a microscope, the cells appear disorganized and irregular (called “disarray”) instead of being organized and parallel. • This disarray may cause changes in the electrical signals traveling through the lower chambers of the heart and lead to ventricular arrhythmia (a type of abnormal heart rhythm).

44. The diagnosis of HCM is based on • Medical history: Your doctor will ask you questions about your symptoms and family history. • Physical exam: Your doctor will listen to your heart and lungs. Patients with hypertrophic obstructive cardiomyopathy (HOCM) may have a heart murmur. • Tests: An echocardiogram is the most common test used to diagnose HCM, as the characteristic thickening of the heart walls is usually visible on the echo. Other tests may include blood tests, electrocardiogram, chest X-ray, exercise stress echo test, cardiac catheterization and magnetic resonance imaging (MRI).

45. medications • BETA-BLOCKERS AND CALCIUM CHANNEL BLOCKERS • relax the heart muscle, allowing it to fill better and pump more effectively. • Other medications may be prescribed as needed to control your heart rate or decrease the occurrence of arrhythmias. • Avoid certain medications: - nitrates, because they lower blood pressure - digoxin, because it increases the force of the heart’s contraction. • Antibiotic medications may be prescribed to reduce the risk of bacterial endocarditis, a potentially life-threatening condition. • Antitussives- to avoid coughing

46. procedures • Septal Myectomy • During this surgical procedure, the surgeon removes a small amount of the thickened septal wall to widen the outflow tract (the path the blood takes) from the left ventricle to the aorta. • Myectomy is considered when medications are not effective in treating HCM. This frequently eliminates the mitral valve regurgitation

47. Ethanol Ablation • This procedure, also called septal ablation, is reserved for patients who are not eligible candidates for septalmyectomy. • The ablation procedure is performed in the cardiac catheterization laboratory. • First, the small coronary artery that supplies blood flow to the upper part of the septum is located during a cardiac catheterization procedure. • A balloon catheter is inserted into the artery and inflated. • A contrast agent is injected to locate the thickened septal wall that narrows the passageway from the left ventricle to the aorta. • When the bulge is located, a tiny amount of pure alcohol is injected through the catheter. • The alcohol kills the cells on contact, causing the septum to shrink back to a more normal size over the following months, widening the passage for blood flow.

48. Implantable Cardioverter Defibrillators (ICD) • ICDs are suggested for people at risk for life-threatening arrhythmias or sudden cardiac death. • The ICD is a small device placed just under the skin and is connected to wire leads that are threaded through the vein to the heart. • An ICD constantly monitors the heart rhythm. • When it detects a very fast, abnormal heart rhythm, it delivers energy (a small but powerful shock) to the heart muscle to cause the heart to beat in a normal rhythm again.

49. Implantable Cardioverter Defibrillators (ICD)

50. Lifestyle Changes: • Certain lifestyle changes, as listed below, are essential for properly managing HCM. • Fluid and sodium restrictions may be necessary for some patients if heart failure symptoms are present. Ask the doctor for specific fluid and dietary guidelines, including information about alcoholic beverages and caffeinated products. • Exercise. • The doctor will discuss exercise guidelines with the patient. • Most people with hypertrophic cardiomyopathy are able to participate in noncompetitive aerobic activities. • Heavy weight lifting and many high-intensity sports are not recommended.