- An inherited disease of the exocrine glands that results in multisystem involvement primarily by affecting the respiratory and gastrointestinal systems. It typically is characterized by chronic obstructive pulmonary disease, abnormally high loss of electrolytes through the sweat glands, and pancreatic enzyme insufficiency, leading to digestive impairments and malabsorption syndrome.

Causes and Incidence Cystic fibrosis (CF) is caused by a defective gene that is inherited from both parents as an autosomal recessive trait. The gene is responsible for encoding a membrane-associated protein called cystic fibrosis transmembrane conductance regulator (CFTR). The exact function of CFTR is unknown, but research shows that it is closely tied to chloride transport. Current research focuses on the causes of seemingly unrelated multisystem effects.
CF is the most common lethal genetic disease among white children and young adults in the United States, with an incidence of 1 in approximately every 2,400 live births. Blacks also are affected, but the rate is about 1 in 17,000 births. CF is rare in Asians and Native Americans.

Disease Process In CF, the exocrine glands are affected in one of three ways: (1) they produce and become obstructed by thickened, sticky mucus; (2) they produce excess normal secretions; or (3) they secrete excess sodium and chloride. The lungs are normal at birth, but bronchioles and bronchi soon become clogged with thick mucous plugs, leading to associated opportunistic infections and overinflation of the lungs. Bronchial walls thicken and airways remain filled with purulent secretions, leading to fibrosis and atelectasis. Chronic hypoxemia leads to hypertrophy of the pulmonary arteries, which leads to pulmonary hypertension and right ventricular hypertrophy. The pancreatic ducts also become clogged with mucous plugs, which interfere with pancreatic enzyme activity. Digestive enzymes fail to reach the small intestine, and as a result, digestion and absorption of nutrients are markedly impaired, leading to excess fat and protein in the stools. The biliary tracts in the liver become plugged with mucus and fibrose over time. Salivary glands and bile ducts may also become clogged. Sweat glands secrete abnormal levels of sodium and chloride, leading to excessive loss of these electrolytes.

Symptoms Signs and symptoms vary widely, involve several systems, and change as the disease progresses. Some children show manifestations at birth, whereas others do not develop symptoms for years. Manifestations range from mild to life threatening. The earliest sign is a meconium ileus, seen at birth in about 10% of infants with CF. All children display sweat gland abnormalities, 85% to 90% have pancreatic and gastrointestinal (GI) tract involvement, and 50% show respiratory involvement.

Sweat glands/skin
Salty tasting skin; salt crystals on nose, forehead and hairline; dehydration, alkalosis in heat or with fever

Pancreas/GI tract
Meconium ileus, with cramps, nausea, vomiting, abdominal distention; frequent, bulky, oily, and foul-smelling stools; normal or voracious appetite; weight loss, failure to thrive; pot belly, wasted buttocks, thin extremities; sallow skin; anemia, easy bruising; rectal prolapse

Respiratory tract
Wheezing, dry cough, rhinitis, gagging; dyspnea; intercostal retractions, use of accessory muscles to breathe; barrel chest, digital clubbing, cyanosis; repeated episodes of upper respiratory infection (URI), bronchial pneumonia

Reproductive system
Delayed onset of puberty; amenorrhea, viscous cervical secretions that block sperm entry in women; sterility in men

Potential Complications Complications are numerous and can include biliary cirrhosis, esophageal varices, portal hypertension, diabetes mellitus, pneumothorax, cor pulmonale, congestive heart failure, peptic ulcer, intestinal obstruction, intussusception, pancreatitis, cholecystitis, and cardiac arrhythmias. CF is a terminal disease. However, the median death rate has climbed, from 7 1/2 years in 1966 to 28 years in 1993. A few individuals have survived to 50 years of age or older.

Diagnostic Tests

Clinical evaluation
Any of the above manifestations, particularly salty skin, failure to thrive, and frequent URIs; family history

Quantitative pilocarpine
Sodium or chloride concentration .60 mEq/L

Iontophoresis sweat test
To obtain definitive diagnosis

Treatments

Surgery
Heart-lung or liver transplantation with advanced disease; treatment of complications (e.g., resection of bowel obstructions, cholecystectomy, portal shunt for esophageal varices).

Drugs
Antibiotics to treat pulmonary infections; amiloride HCl (aerosol) to inhibit sodium and water reabsorption in the lungs; DNase and other drugs to thin mucus; alphaantitrypsin to reduce inflammation; pancreatic enzyme replacements (e.g., pancrelipase); bronchodilators to aid breathing.

General
Diet therapy, with 50% increase in normal caloric and protein intake, high fat intake, multivitamins, water-miscible vitamin E, sodium supplements, enteral supplementation in severe cases Prophylaxis against respiratory infection with pertussis, measles, and flu vaccines Chest physiotherapy to increase movement of mucus from lungs (postural drainage, percussion, vibration, and assisted coughing; oxygen therapy for hypoxia; exercise to stimulate mucus movement) Long-term psychologic counseling for individual and family; genetic counseling for parents; support groups; home care, respite care.

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- A slow-growing, benign cystic tumor found in the subcutaneous tissue below the skin or in the intradermal tissue of the skin.

Causes and Incidence Cyst formation is commonly caused by inflammation, internal rupture of an acne pustule or whitehead, impaired localized circulation, or trauma. Some individuals may be genetically predisposed to cyst formation.

Disease Process Cysts contain a soft, yellow-white, cheesy substance that is often fetid and that forms when a hair follicle becomes obstructed. The contents of the cyst are determined by the type of cyst. Dermoid cysts are located deep in the subcutaneous tissue; have walls of keratinizing epidermis containing sweat glands, hair follicles, and sebaceous glands; and are often present at birth. Epidermal cysts (i.e., acne cysts) are found in the epidermis on the face, scalp, neck, and back; they contain laminated layers of keratin. Sebaceous cysts, or wens, occur primarily on the scalp and contain soft keratin, epidermal debris, and greasy material.

Symptoms Cysts are found on or under the skin, are generally less than 3 cm in diameter, and are round, firm, globular, and movable to the touch. They are nontender unless infected. Cysts, particularly sebaceous type, can grow as large as a grapefruit.

Potential Complications Cysts may become infected.

Diagnostic Tests A characteristic lesion is seen on clinical examination.

Treatments

Surgery
Excision of the cyst and cyst wall; incision and drainage of infected cysts.

Drugs
Antibiotics for infected cysts.

General
Instruction not to touch, squeeze, or pick lesions, since this may lead to infection.

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- Ischemic necrosis and ulceration of tissues that overlie a bony prominence and that have been subjected to prolonged external pressure from a supporting surface such as a bed or wheelchair.

Causes and Incidence Decubiti are caused by prolonged pressure on tissues compressed between an internal body structure, such as bone, and an external surface. The force and duration of the pressure directly determine the size of the ulcer. Contributing factors include immobilization, sensory and motor deficits, reduced circulation, malnutrition, anemia, edema, infection, friction, moisture, incontinence, shearing forces, decreased tissue integrity or viability, and aging.

Disease Process Pressure exerted over an area interferes with the blood supply to the tissue, producing ischemia and increasing capillary pressure. This leads to edema and multiple small-vessel thromboses and sets up an inflammatory reaction. If the pressure is not relieved, the ischemic tissue necroses and ulcerates.

Symptoms Decubitus formation has six definable stages with characteristic signs and symptoms.

Stage 1
Redness that blanches with pressure; skin is warm and soft to the touch

Stage 2
Redness, edema, and induration; skin often abraded or blistered

Stage 3
Breaks in the skin as it becomes necrotic; exposure of subcutaneous tissue; drainage from wound

Stage 4
Necrosis extends to subcutaneous tissue; drainage is foul smelling and yellow

Stage 5
Necrosis extends through fat to muscle; wound may develop a black, leathery eschar around the edges; drainage is greenish

Stage 6
Necrosis extends to bone; deep tunnels form in fat and muscle; body cavities (e.g., rectum or bladder) are eroded; bone is destroyed through periostitis and osteitis

Potential Complications Bacteremia and septicemia are common complications. Osteomyelitis, septic arthritis, and pathologic fractures also can occur.

Diagnostic Tests Clinical evaluation revealing the characteristic picture described under Clinical Manifestations; history of one or more predisposing and contributing factors.

Treatments

Surgery
Stages 4-6: debridement and closure; skin grafting, skin flaps, muscle flaps; joint disarticulation may be required with large stage 5 or stage 6 ulcers.

Drugs
Topical applications (e.g., enzymatic ointments) to debride necrotic tissue, hydrophilic gels for reepithelialization; topical antibiotics for debridement and to suppress infection; platelet-derived epidermal growth factors for tissue healing.

General
Elimination of pressure through frequent turning, special beds, mattress overlays, and wheelchair pads filled with gels, air, water, sand, or other pressurerelieving ingredients; use of lifting devices to prevent shearing; debridement with wetdry dressings; irrigation with whirlpool baths; electrical stimulation to promote antibacterial effect and stimulate muscle protein synthesis; balanced nutrition; control of incontinence and careful cleansing; instruction in ulcer prevention: frequent use of pressure relief measures (turning, raising off buttocks, weight shifts when seated); daily skin inspections; use of pressure relief mattress overlays and wheelchair cushions; clean, dry clothing and bed linens free of wrinkles and treated with fabric softener; lotion on all skin surfaces, especially over bony prominences, to reduce friction.

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- A superficial inflammation of the skin with redness, edema, vesicles, crusting, scaling, and sometimes itching. Common types include atopic, contact, nummular, or seborrheic dermatitis, all of which may be acute or chronic in nature.

Causes and Incidence The cause of atopic dermatitis is unknown, but the condition is often associated with other atopic diseases such as allergic rhinitis, asthma, or hay fever; these individuals have high serum levels of IgE antibodies. The response is thought to be hereditary, and it is seen in infants, children, and adults. Contact dermatitis, which can be irritant or allergic in nature, is caused by contact with various biologic or chemical irritants, such as acids, alkalis, dyes, detergents, latex, metals, plant oils, and solvents. The etiology of nummular dermatitis is unknown, but the condition is associated with increased stress and winter weather and is most commonly seen in middle age. The cause of seborrheic dermatitis is also unknown; this condition is associated with hereditary factors and underlying neurologic disease and can be seen in neonates and children, as well as adults.

Disease Process The histologic agent causes inflammatory changes in the skin, including vasodilation, edema, mononuclear cell infiltration into the dermis and epidermis, and breakdown of the epidermal cells. This leads to the visible changes on the skin’s surface (i.e., redness, swelling, oozing, crusting, scaling, and itching). If the process is repeated over a period of time, the epidermis thickens, producing hyperkeratosis and a chronic scaly appearance.

Symptoms

Atopic type
Constant itching that sets up an itch-scratch-rash-itch cycle; red, scaly papules that coalesce into plaques that ooze and crust; common sites are hands, face, and flexural areas

Contact type
Transient redness to bulla formation; itching is common; weeping, crusting

Nummular type
Sharply circumscribed, moist, oozing discoid plaques that later become dry and scaly

Seborrheic type
Dry, diffuse scaling of scalp; oozing, crusted, red-yellow scalp lesions or scaly plaques that recur; may be found in external ear canals, eyebrows, and nasolabial folds and on sternum

Potential Complications Secondary infection is the most common complication. Chronic dermatitis, which appears on the hands or feet, can restrict function and become crippling.

Diagnostic Tests Clinical evaluation with characteristic manifestations; detailed history to locate possible source of contact rash; patch test may isolate allergens; immunofluorescence will show elevated IgE in atopic dermatitis.

Treatments

Surgery
None.

Drugs
Antipruritics for itching; topical/systemic corticosteroids to relieve inflammation; topical keratolytics to reduce scaling.

General
Oils on affected areas; removal of irritant in contact dermatitis; daily use of seborrheic shampoos; humidification; cool, wet cloths on open lesions.

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- A transient or permanent disturbance of water metabolism that results in excretion of excessive quantities of very dilute urine. It may be pituitary (central), renal (nephrogenic), or intake regulated (primary) in nature.

Causes and Incidence Central diabetes insipidus (DI) is the result of a lack of antidiuretic hormone (ADH), which can be caused by brain injury from head trauma, neurosurgery, irradiation of the pituitary, hypothalamic tumors, or infiltrative metastatic diseases. More than half of diagnosed cases are idiopathic. Nephrogenic DI results when the body is unable to respond normally to ADH. The condition is inherited as an X-linked recessive disorder or acquired in association with disorders such as renal disease, sickle cell disease, fibrosarcoma, granuloma, polynephritis, metabolic disease, polycystic disease, or pregnancy or with toxic agents that reduce glomerular filtration. Primary DI results from excessive water intake caused by psychogenic disorders (e.g., schizophrenia) or dipsogenic disorders (e.g., multiple sclerosis, meningitis, encephalitis, neurosarcoidosis, or tuberculosis).

Disease Process Central DI begins when some form of brain injury reduces the amount of ADH. This leads to a decrease in the hydroosmotic permeability of the distal collecting tubes in the kidney, allowing the dilute urine formed in the proximal nephrons to be excreted unchanged. The result is a slight dehydration effect, an increase in plasma osmolality, and stimulation of the thirst mechanism. The individual drinks more, and as a result input and output are balanced and osmotic pressure in the body stabilizes at an above-normal level. In nephrogenic DI the kidneys are rendered ADH resistant and hydroosmotic permeability is reduced, with the same end result as in central DI. Primary polydipsia is caused by excessive water intake, either because of a severe cognitive dysfunction or because the thirst regulator has been disrupted by disease or trauma. Plasma osmolality is reduced, which causes a decrease in the production of ADH and dilutes the urine, and excretion rises to meet intake. As intake and output are balanced, plasma osmolality stabilizes at below-normal levels.

Symptoms The most common presenting signs and symptoms are unquenchable thirst, polydipsia, frequency of urination, polyuria, nocturia, dry skin, slight dehydration, and constipation.

Potential Complications A prolonged increase in urine volume and flow can lead to hydroureter and hydronephrosis. An individual who has no thirst mechanism may experience severe dehydration and circulatory collapse.

Diagnostic Tests

Fluid deprivation test
Central and nephrogenic DI: urine osmolality remains low Primary DI: osmolality increases.

Vasopressin administration after fluid deprivation
Central DI: osmolality rises Nephrogenic and primary DI: osmolality is unchanged.

Treatments

Surgery
None unless related to underlying disease.

Drugs
Central DI: synthetic vasopressin or chlorpropamide to increase urine osmolality.

Nephrogenic DI: thiazide diuretics to reduce urine volume.

General
Identification and treatment of any underlying organic cause for DI; reduction of sodium and caffeine in diet for central DI and nephrogenic DI; monitoring for hypoglycemia if chlorpropamide is prescribed; information about long-term hormone replacement therapy.

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