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nbde diseases

disease names and short descriptions

QuestionAnswer
addisons disease low cortisol and aldosterone levels. Autoimmune. Increase ACTH, decreased corticosteroids (adrenal cortex). Symptoms: weakness, GI disturbances (vomiting, diarrhea), hypoglycemia, vitiligo, hypotension (due to low aldosterone causing sodium loss)
Alber’s Schonberg Disease aka osteopetrosis and marble bone disease. Increase in bone density. Liverand spleen enlarge, may lead to blindness or deafness.
Albinism: Deficiency of tyrosinase, leads to failure to covert tyrosine to melanin.
Alport’s Syndrome: Inherited disorder involving damage to the kidney, split basement membranes.Collagen IV mutation. Symptoms: hematuria, hearing loss, possible vision loss.
Behcet’s Disease: Chronic relapsing inflammatory disease that causes relapsing painful mouth sores, skinblisters, genital sores and swollen joints.
Beriberi: Vit B1 (thiamine) def. High cardiac output, and peripheral neuropathy. Dry skin, irritability,disorderly thinking and progressive paralysis.
Bernard Soulier Disease Autosomal recessive disorder involving deficient platelet cell membranecausing problems with platelets binding collagen. Leads to minor bleeding disorders
Bronzed Disease: Bronzed diabetes. Too much iron absorption from diet leading to organ failure anddeath. (CHF, Hepatocellular carcinoma). Symptoms: A “tan” look, kidney failure giving the appearance of diabetes mellitus.
Budd Chiars Syndrome: Occlusion of IVC with centrilobular congestion and necrosis of liver. Eventualliver failure.
Burkitt’s Lymphoma: EBV associated, tumor occurs in Africa, usually involves jaw and facial bones. InAmerica the abdomen is most affected. Cancerous cell = B cell, causes marrow replacement.
Burton’s agammaglobulinemia Inability to produce B cells. IgG levels are way low and IgM and IgAlevels are absent. X-linked recessive.
Caisson Disease: Gas embolism from deep sea diving.
Christmas Disease: Hemophilia B (factor IX deficiency), X-linked recessive (like Hem A)
Conn’s Disease: Primary aldosteronism. More often in women. Symptoms: renal problems, abdominalpain, pancreatitis, muscle weakness, constipation, arthritis (gout), low plasma renin, hypokalemia,metabolic alkalosis, hypertension. 2ndary hyperaldosteronism = inc renin.
Cri du Chat deletion of short arm of chromosome 5. High pitched crying (meowing like cat).Retardation, cardiac abnormalities.
Crohn’s Disease: Also called granulomatous colitis. Inflammatory disorder of the large and smallintestine. Can be familial. Symptoms: irritable bowel without bloody diarrhea. There can be difficulty inabsorption of nutrients (Vit B12)
Cushing’s Disease: Hypercortisolism caused by hyperactive adrenal cortex due to increase in ACTH.Symptoms: weight gain usually in trunk, facial and cervical areas (truncal obesity, moon face, and buffalo hump). Protein wasting affects muscles, bone, collagen.
Cystic fibrosis- exocrine gland problem. Defect in CFTR gene on chrom. 7q. Effects mucus and sweatglands. Meconium ileus in infants.
Diabetes Insipidus: Low ADH levels leads to polyuria and polydipsia
Diabetes Mellitius: types I (lack of insulin production) and II (body=insensitive to the insulin). Leads to polyphagia, polydipsia and polyuria.
DiGeorge’s Syndrome: Lack or partial lack of thymus causing lymphopenia caused by congenital aplasiaof hypo plasia (intrauterine infection causes). Failure of third and fourth pharyngeal arches.
Eaton-Lambert Syndrome: Bronchial carcinoma (small cell carcinoma) causing muscle debility
Edward’s Syndrome: Trisomy 18. Pinched facial appearance (small head and malformed/low set ears).MR. Survives only months. Congenital heart disease.
Ehler-Danlos Syndrome: Problem in the cross-linking of collagen. stretchy skin.
Eisenmenger’s Syndrome: Left→Right to Right→Left shunt due to pulmonary hypertension
Familial Mediterranean Fever: Inherited intestinal disorder. Symptoms: recurrent fevers and intestinalinflammation.
Gardner’s Syndrome: Autosomal dominant disorder. Including dental abnormalities, polyps, osteomas,etc.
Gaucher’s Disease: lipid storage disease. Increase in glucocerebrosides in mononuclear phagocytes due todeficiency of glucocerebrosidase. Enlargement of spleen and liver. Lipidoses disease, similar to Hurler’ssyndrome, Tay Sachs syndrome, and Niemann Pick syndrome.
Gilbert’s Syndrome: Increased unconjugated bilirubin associated with stress.
Gilchrist’s Disease: Blastomychosis.
Goodpasture’s Disease: Autoimmune disease. Ab against pulmonary capillary and kidney basementmembrane. Men, 20-40. Symptoms: hematuria, hemoptysis, proteinuria, edema, hypertension.(cough blood and pee blood). A type II hypersensitivity.
Grave’s Disease: Most common form o fhyperthyroidism. Autoimmune disease against thyroid causing itto enlarge (goiter). Symptoms: common symptoms for hyperthyroidism plus ocular edema.
Guillain-Barre Syndrome: cute idiopathic polyneuritis. Severe motor effect. Cardiac irregularities.Elevated CSF protein.Hand-Schuller-Christian Disease
Hand-Schuller-Christian Disease: Subdivision of histiocytosis X (other subdivisions Letterer-Siwedisease and eosinophilic granuloma). All three are different manifestations of the same disease.
Hashimoto’s Thyroiditis: Gradual thyroid failure because of autoimmune destruction of the thyroidgland. Symptoms are similar to hypothyroidism.
Hodgkin’s Disease: Lymphoma with decrease in T cells and increase in B cells. Reed Sternberg cell isidentifying feature. Symptoms: enlarged painless mass starting in neck, fever in evening.
Horner’s Syndrome: ptosis, miosis, anhidrosis.
Huntington’s Disease: Choreiform movements, decreased GABA and Ach. Caudate atrophy. Autosomaldominant.
Hurler’s Syndrome: Lipidoses. Increase in heparin sulfate and dermatin sulfate in heart, brain and liver due to the disorder of the lipid metabolism caused by a deficiency of the enzyme a-L-iduronidase. Symptoms: dwarfism and mental retardation. Death by age 10.
Histiocytosis X: An immunologic disorder of unknown cause where there is proliferation of histiocytes inthe blood stream.
Kartageners’s Syndrome: Immotile cilia – results in infertility, bronchiectasis (dialated airways) andrecurrent sinusitis.
Klienfelter’s Syndrome: Two X chromosomes and one Y. Symptoms: small testicles, sparse hair on body, womanly features.
Letterer-Siwe Disease: Subdivision of histiocytosis X (other subdivisions Hand-Schuller-ChristianDisease and eosinophilic granuloma). All three are different manifestations of the same disease.
Ludwig’s Angina: Cellulitis, usually of odontogenic origin, bilaterally involving the submandibular,sublingual and submental spaces, resulting in painful swelling of the floor of the mouth, elevation of thetongue, dysphagia, dysphonia, and compromised airway at times.
Mallory-Weiss Syndrome: Mucosal gastric tears mostly at the gastroesophageal junction or proximalstomach. Due to excessive vomiting and without Lower esophageal sphincter closure. Leads to hematemesis (vomiting of blood). Common in alcoholics. esophageal varices.
Marfan’s Syndrome: A disorder of the CT of the body, manifested principally by changes in the skeleton,eyes, and Cardiovascular system. Tall and thin patient w/ long limbs and spider like fingers.
Meig’s syndrome: triad of ovarian fibroma, ascites and hydrothorax.
Milk alkali syndrome: caused by too much milk consp. Tips acid/base balance to alkaline. Complicationskidney problems ( hypercalcemia kidney stones)
Myasthenia Gravis: Development of auto antibodies against the Ach receptors at the neuromuscularjunction. Results are voluntary muscle groups fatigue easily on repeated use.
Myxedema: thyroid deficiency leading to swelling of skin around eyes, lips and nose.
NephrItic syndrome: inflammation, hematuria, azotemia, hypertention and oliguria.
NephrOtic syndrome: prOteinuria, hyperlipidemia, hypoalbuminemia, and edema (periorbital andperipheral).
Niemann-Pick Disease: Lipid accumulation due to a disorder of the lipid metabolism caused by adeficiency of sphingomyelinase, similar to Tay Sachs, Gaucher’s Syndrome and Hurler’s Syndrome. Death by age 3.
Osgood-Schlatter Disease: Between 10-15 in athletic boys. Tenderness and swelling at the tibial tuberosity on the knee.
Osler-Weber-Rendu Syndrome: Hereditary hemorrhagic telangiectasia.
Osteomalacia: Vit D deficiency in adults weak and soft bones (“adult rickets”)
Paget’s disease (AKA Osteitis deformans): Excessive bone breakdown, followed by abnormal boneformation. Skull often affected, gets larger. Ages 50-70. affected bones look “cotton- wool” opaque in xrays.
Papillon-Lefevre Syndrome: Autosomal recessive inheritance which occurs b/t 1-5 years of life.Congenital hyperkeratosis of the palms and soles, with progressive destruction of the alveolar bone of both deciduous and permanent teeth.
Patau’s Syndrome: Trisomy 13. Severe brain and eye defects. Mental retardation. Few live beyond 1year of age.
Pellegra: Vit. B3 (Niacin) deficiency, leads to: dementia, diarrhea and dermatitis.
Pemphigus: make antibodies against own desmosome protein (desmogleins). Disrupts desmosomesbetween epith cells of skin. (also, Bullous pemphigoid- hemidesmosome disruption, leads to separation of epith and basal lamina)
Peutz-Jeghars Disease: Hereditary condition similar to Gardner’s Syndrome causing many polyps toappear in GI tract. Melanin pigmentation of oral mucosa around lip and gingival is characteristic. Peoplehave an increased risk of pancr, brst, lng, ovary, uter cancers not colon
Plummer Syndrome: Many toxic thryroid nodules (adenomas) in thyroid.  hyperthyroidism . Commonin elderly, same symptoms as Grave’s except popping eyes is rare.
Plummer-Vinson Syndrome: atrophic glossitis, esophageal webs, anemia all due to iron deficiency.Leads to scc of esophagus. Dysphagia.
Polio- LMN disease, oral-fecal route.
Pseudomyxoma peritonei- mucous in peritoneal cavity from ovarian or appendix tumor.
Reiter’s Syndrome: Often associated with Chlamydia Trachomatis. Symptoms: urethritis, conjunctivitis,arthritis, and mucocutaneous lesions. “can’t see, can’t pee, can’t climb a tree”
Reye’s disease: acute liver failure and brain damage in children w/ Asprin ingestion (for chickenpox or influenza tx).
Ricket’s: Vit D deficiency in kids  weak bones, bowed legs.
Scurvy: Vit C (absorbic acid) def. Leads to defective wound healing, and defective formation of mesenchymal tissue and osteoid matrix.
Sjogren’s Syndrome: Autoimmune disease of the salivary and lacrimal glands. Marked by chronicinflammation of those glands. This leads to fibrosis and atrophy of glands. Symptoms: Triad includes:connective tissue disorder (ie arthritis), xerostomia, and dry eye.
Steven-Johnson Syndrome: erythema multiforme in children and young adults. Symptoms: characteristic bullous formation (“target” lesion) on skin and mucous membrane. When these rupture it can cause sore throat, cough, and can even cause blindness, difficulty eating and swallowing
Stone Mason’s Disease: Silicosis. Fibrosis of lungs from inhaling all the silica dust.
Tay-Sachs Disease: Most common lipid storage disease. lipid metabolism problem caused by deficiency of hexosaminidase A = accumulation of Gm2 ganglioside. problem=lysosome of cells. symptoms are CNS (though all cells affected. Onset = 6 months old. Death by 5.
Turner’s Syndrome: Females are usually sterile, shortstature, sparse hair. Those with this syndrome are more apt to get ovarian cancer due to streaks of collagen in ovaries.
Vincent’s Infection: ANUG
Von Hipple-Lindau Disease Familial syndrome with hemangioma of retina and cerebellum. Cysts ofliver, kidney, pancreas and adrenal glands. Auto. Dominant, deletion of VHL gene of chrom 3.
Von Recklinghausen’s Disease: Autosomal dominant. hyperparathyroidism. Result: brittle bones (extensive bone decalcif.), high blood Ca++ & low PO4 levels. …leads to muscular weakness. AKA elephant’s disease. Increase risk ca. Symptoms: café au lait spots to malignant neurofibromas.
Von-Willebrand’s Disease: Deficiency of Von-Willebrand’s Factor. Causes increased bleeding time dueto the inability of collagen to bind platelets. Also causes increased clotting time because of factor XIII insufficiencies.
Waterhouse-Friederichson’s Syndrome: The adrenals are converted to sacs of clotted blood obscuring all underlining detail. More in children, overwhelming bacterial infection esp. Niesseria. meningitides, hypotension leading to shock, and widespread purpura.
Wernicke- Korsakoff syndrome: Vit B1 (Thiamine) deficiency in alcoholics. Clinical triad: 1)psychosis,2) opthalmoplegia (paralysis of eye muscles) and 3) ataxia (loss of coor.)
`Whipple’s Disease: Caused by Tropheryma Whippelii, which principally effects the intestines, CNS, andjoints. Found predominantly in males between 30-40 years of age.
Wilm’s tumor: kidney tumor of early childhood (ages 2-4). Can be part WAGR complex (USMLE, p 271)
Wilson’s Disease: Autosomal recessive disorder of copper metabolism. Causes overdose of copper in theliver, brain, kidney and corneas. Symptoms: greenish/yellowish ring in cornea, cirrhosis of liver,abdominal pain, and jaundice. Enlargement of liver and spleen.
Wiskott-Aldrich Syndrome: X-linked recessive. IgM antibody is greatly depressed. Difficult to formany kind of immune attack on bacteria with cell wall (pneumococcus, P. aeroginosa, H. influenzae).
Zollinger-Ellison Syndrome: Tumor (gastrinoma) of the pancreatic islet cells that results in anoverproduction of gastric acid, leading to fulminant ulceration of the esophagus, stomach, duodenum, and jejunum.
Created by: ericwin99 on 2009-07-09



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