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Less common disorders:C

2025-04-08 生物化学 加入收藏
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSCancer of the vulvaCause unkn
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMS
Cancer of the vulva

  • Cause unknown; affects external female reproductive organs
  • Usually occurs after menopause
  • Accounts for 3% to 4% of all cancers of the female reproductive system.
Squamous and basal cell cancers (90% squamous, 4% basal, 6% rare cancers) that usually begin on skin surface and are mostly slow-growing. Untreated, cancer spreads to vagina, urethra, anus, or lymph nodes.
  • Unusual lumps or sores
  • Vulvar pruritus
  • Bleeding
  • Small painful, infected ulcer
  • Groin pain
  • Abnormal urination and defecation
Cardiogenic shock

  • Can result from conditions that cause significant ventricular dysfunction with reduced cardiac output, such as MI, myocardial ischemia, papillary muscle dysfunction, or end-stage cardiomyopathy
Decreased perfusion triggers baroceptor reflexes and fluid regulation mechanisms. The adaptive mechanisms eventually fail and positive feedback loops develop due to increased cardiac workload and tissue hypoxia. This may lead to extensive ischemic damage to vital organs such that the patient cannot recover.
  • Cold, clammy, pale skin
  • Decrease in systolic blood pressure to 30 mm Hg below baseline
  • Tachycardia
  • Rapid, shallow respirations
  • Restlessness and mental confusion
  • Narrowing pulse pressure and cyanosis
Carpal tunnel syndrome

  • Mostly idiopathic or may result from trauma or repetitive motion of the wrist
  • Many conditions, including alterations in the endocrine or immune systems, may increase the fluid pressure in the tunnel
Compression of the median nerve from inflammation or fibrosis of the tendon sheaths initially impairs sensory transmission to the thumb, index finger, second finger, and inner aspect of the third finger.
  • Weakness, pain, burning, numbness, or tingling in both hands
  • Paresthesia affects thumb, forefinger, middle finger, and half of the fourth finger
  • Inability to clench fist
  • Nails may be atrophic
  • Dry and shiny skin
Celiac disease

  • Results from a complex interaction involving dietary, genetic, and immunologic factors
Ingestion of gluten causes injury to the villi in the upper small intestine, leading to a decreased surface area and malabsorption of most nutrients. Inflammatory enteritis also results, leading to osmotic diarrhea and secretory diarrhea.
  • Recurrent diarrhea, abdominal distention, stomach cramps, weakness, or increased appetite without weight gain
  • Normochromic, hypochromic, or macrocytic anemia
  • Osteomalacia, osteoporosis, tetany, and bone pain in lower back, rib cage, and pelvis
  • Peripheral neuropathy, paresthesia, or seizures
  • Dry skin, eczema, psoriasis, dermatitis herpetiformis, and acne rosacea
  • Amenorrhea, hypometabolism, and adrenocortical insufficiency
  • Mood changes and irritability
Cerebral aneurysm

  • May be due to atherosclerosis, trauma, congenital defect, inflammation, infection, or cocaine use
A single pathologic mechanism does not exist.Several days before event:
  • Headache
  • Stiff legs and back
  • Nuchal rigidity
  • Nausea
Onset abrupt without warning:
  • Severe headache
  • Vomiting
  • Altered consciousness
  • Coma
Cervical cancer

  • Cause unknown; predisposing factors include intercourse under age 16, multiple sex partners, multiple pregnancies, and venereal infections
  • Two types of cervical cancer: preinvasive and invasive
Preinvasive cancer is curable with early detection causing minimal cervical dysplasia in the lower third of the epithelium. Invasive cancer penetrates basement membrane to disseminate throughout the body via lymphatic routes. Histologic type is 95% squamous cell carcinoma.Preinvasive cancer:
  • Early invasive cancer shows no clinical changes or symptoms
  • Abnormal vaginal bleeding
  • Persistent vaginal discharge
  • Postcoital pain and bleeding
Advanced stages:
  • Pelvic pain
  • Vaginal leakage of urine or feces from fistula
  • Anorexia, weight loss, and anemia
Cervical spondylosis

  • Caused by narrowing of cervical canal or neural foramina due to degenerative changes in the intervertebral disk and annulus and to bony osteophytes
Progressive myelopathy leads to cord compression, causing a spastic gait.
  • Arm weakness and atrophy with reflex loss
  • Hyperreflexia and increased tone
  • Plantar extensor response in legs
Chalazion

  • Due to obstruction of the meibomian (sebaceous) gland duct
Blockage of the meibomian gland leads to the formation of granulation tissue.
  • Local swelling
  • Mild irritation
  • Blurred vision
  • Red-yellow elevation on conjunctival surface under eyelid
Chédiak-Higashi syndrome

  • Linked to consanguinity and transmitted as an autosomal recessive trait
A genetic defect that manifests in morphologic changes in the granulocytes and causes delayed chemotaxis and impaired intracellular digestion of organisms; diminished inflammatory response results.
  • Recurrent bacterial infections, primarily in the skin, lungs, and subcutaneous tissue
  • Fever
  • Thrombocytopenia, neutropenia, and hepatosplenomegaly
  • Significant photophobia
  • Motor and sensory neuropathies
  • Cellular proliferation of liver, spleen, and bone marrow is fatal
Cholera

  • Acute enterotoxin-mediated GI infection due to gram-negative bacillus, which is transmitted through water and food contamination with fecal material from carriers or people with active infections
Following ingestion of a significant inoculum, colonization of the small intestine occurs. The secretion of a potent enterotoxin results in a massive outpouring of isotonic fluid from the mucosal surface of the small intestine. Profuse diarrhea, vomiting, fluid and electrolyte loss occurs and may lead to hypovolemic shock, metabolic acidosis, and death.Incubation period is several hours to 5 days
  • Acute, painless, profuse watery diarrhea, and vomiting
  • Intense thirst, weakness, and loss of skin tone
  • Muscle cramps
  • Cyanosis
  • Oliguria
  • Tachycardia
  • Falling blood pressure, fever, and hypoactive bowel sounds
Chronic fatigue syndrome

  • Cause unknown; may be found in HHV-6 or other herpesviruses, enteroviruses, or retroviruses
Infectious agents or environmental factors trigger an abnormal immune response and hormonal alterations.
  • Prolonged, overwhelming fatigue
Centers for Disease Control and Prevention use a “working case definition” to group severity and symptoms
Coccidioidomycosis

  • Fungal infection due to possible inhalation of Coccidioides immilis spores from the soil or in plaster casts or dressing of infected people
C. immilis induces a granulomatous reaction that results in caseous necrosis.
  • Acute or subacute respiratory symptoms
  • Dry cough, pleuritic chest pain, and pleural effusion
  • Fever and sore throat
  • Chills, malaise, headache, and itchy macular rash
  • Tender red nodules on legs with joint pain in knees and ankles in Caucasian women
  • Chronic pulmonary cavitation
Colorado tick fever

  • Virus is transmitted to human by a hard-shelled wood tick, Dermacentor andersoni . Tick acquires the virus when it bites an infected rodent and remains a permanently infected vector
Virus circulates inside of erythropoietic cells, producing typical febrile symptoms.Incubation is 3 to 6 days; symptoms begin abruptly
  • Chills, high temperature, severe back, arm and leg aches, and lethargy
  • Headache with ocular movement
  • Photophobia, abdominal pain, nausea, and vomiting
Complement deficiencies

  • Primary complement deficiencies inherited as autosomal recessive traits; however, C1 esterase inhibitor is autosomal dominant
  • Secondary deficiencies may follow complement-fixing immunologic reactions
Series of circulating enzymatic serum proteins with nine functional components labeled C1-C9. This disease may increase susceptibility to infections and certain autoimmune disorders.Clinical effects vary with specific deficiency C5 deficiency (familial defect in infants):
  • Diarrhea and seborrheic dermatitis
C1 esterase inhibitor deficiency:
  • Swelling in face, hands, abdomen, or throat, with possible fatal laryngeal edema
C2 and C3 deficiencies and C5 familial dysfunction:
  • Increase susceptibility to bacterial infection
C2 and C4 deficiencies:
  • Collagen vascular disease (lupus and chronic renal failure)
Costochondritis

  • Cause unknown
An inflammatory process of the costochondral or costosternal joints is initiated, causing localized pain and tenderness.
  • Sharp pain in chest wall
  • Area is sensitive to touch
  • Pain may radiate into arm
  • Pain worsens with movement
  • Reproducible pain
Creutzfeldt-Jakob disease

  • Prion infection
Organism infects the CNS, leading to myelin destruction and neuronal loss.
  • Myoclonic jerking, ataxia, aphasia, visual disturbances, paralysis, and early abnormal electroencephalogram
Cryptococcosis

  • Fungal infection due to Cryptococcus neoformans , which is transmitted in particles of dust contamination by pigeon feces
Transmission is by inhalation of cryptococci. An asymptomatic pulmonary infection disseminates to extrapulmonary sites, usually CNS, but also skin, bones, prostate gland, liver, or kidneys. Left untreated, infection progresses from coma to death due to cerebral edema or hydrocephalus.
  • Fever, cough with pleuritic pain, and weight loss
  • Severe frontal and temporal headache, diplopia, blurred vision, dizziness, aphasia, and vomiting
  • Skin abscesses and painful lesions of the long bones, skull, spine, and joints
Cystic echinococcosis

  • Infection due to tapeworm larvae, Echinococcus gramulosus, E. multilocularis , or E. vogeli
  • Mainly transmitted by dogs that ingested the viscera of infected sheep
  • Also found in coyotes, wolves, dingoes, and jackals
E. granulosus forms cysts in the liver, lungs, kidneys, and spleen; infection can be treated with surgery. E. multilocularis (alveolar hydatid disease) forms parasite tumors in the liver, lungs, brain, and other organs; infection can be fatal.Slow-growing cysts may be asymptomatic for years. Symptoms reflect location and size of cysts.
Cystinuria

  • Inherited autosomal recessive defect
  • Prevalent in short people; cause unknown
Impaired function of membrane carrier proteins essential for transport of cystine and other dibasic amino acids results in excessive amino acid concentration in urine and excessive urinary excretion of cystine.
  • Dull flank pain and capsular distention from acute renal colic; hematuria
  • Tenderness in the costovertebral angle or over the kidneys
  • Urinary obstruction with secondary infection (fever, chills, frequency, and foul-smelling urine)


 


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