Disorders Flashcards
Cystic Fibrosis
Hereditary disorder characterized by congestion, infection, and malabsorption of nutrients by the pancreas
CFTR transports reduced in plasma membranes or may be defective reducing Cl- in extracellular spaces needed for NaCl effecting hydration.
Dehydration of respiratory and intestinal mucosal linings leads to thick mucus in the airways and in the pancreatic duct.
The predominant mutation (70% of CFTR gene mutations) is a three base-pair deletion resulting in the loss of phenylalanine at codon 508
Sweat test for diagnosis (CFTR runs backward in sweat glands reabsorbing Cl-)
Diabetes Mellitus
characterized by high blood glucose levels.
Glucose is found in urine when the blood glucose is greater than 170-180mg%.
Pancreas does not produce enough insulin, or cells do not respond to the insulin that is produced
Most common clinical condition in which glucose (sugar) is present in urine
Type 1 body’s failure to produce insulin.
Type 2 insulin resistance, sometimes combined with an absolute insulin deficiency.
Gestational diabetes, occurs when pregnant women without a previous diagnosis of diabetes develop a high blood glucose level. It may precede development of type 2
Steatorrhea
Fatty feces caused by:
Lack of conjugated bile salts due to liver damage
Defects related to pancreatic enzymes
Defects in mucosal cells related to uptake of nutrients.
Gallstones
A deficiency of conjugated bile salts can lead to gallstones, which are commonly composed of cholesterol.
Gallstones can result from lack of bile salts or a too high content of cholesterol (or conjugated bilirubin) in bile. This imbalance leads to reduced solubility in bile and stone formation
Cholesterol is released from the liver into bile, and bile contains bile salts and phosphatidylcholine to keep the free cholesterol in solution
Hemolytic Anemia
Abnormal breakdown of red blood cells
Pyruvate kinase deficiency is the second most common form of hemolytic anemia due to RBC enzyme deficiency
ATP is required in RBCsto maintain the electrolyte concentration of the RBCs(operation of the Na+-K+ATPase). Defects in glycolysiswould result in hemolysisand hemolytic anemia due to decreased ATP generation.
Lactic Acidosis
Type of metabolic acidosis
–pH is low; serum HCO3–is decreased; PCO2is decreased during compensation
Lactic acidosis is observed when
–There is an increased conversion of pyruvate to lactate (increased NADH/NAD+ratio)
–Strenuous muscle activity
–Inherited deficiency of pyruvatedehydrogenase (Leigh disease)
–Thiamine deficiency resulting in lowered activity of pyruvatedehydrogenase
–Defect in gluconeogenesis(decreased conversion of lactate to glucose)
–Decreased blood supply resulting in anaerobic metabolism in the peripheral tissues
Werneke-Korsakoff syndrome
Manifestation of thiamine (vitamin B1) deficiency.
Characterized by Ataxia, Ophthalmolplagia, Memory loss, Cerebral Hemorrhage, Heart failure
Leber’s Hereditary Optic Neuropathy
Degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision.
Defect in NADH dehydrogenase (ETC)
Kearns-Sayre syndrome
Chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities
MELAS Syndrome
Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes
MERRF syndrome
Myoclonic Epilepsy; Ragged Red Fibers
Systemic Lupus Erythematosis
An autoimmune disease with multiple symptoms including extreme fatigue, arthritis, fever skin rashes and kidney problems.
Individuals with this condition possess antibodies that react with the U1 RNA component of the spliceosome.
Barth’s Syndrome
Deficiency inn cardiolipin
Cardiomyopathy, Neutropenia(decreased neutrophils) muscle weakness, growth delay, etc.
Neurotransmitters and their Amino Acid precursors
Dopamine and Catacholamine - L-DOPA - Tyrosine
Serotonin - Tryptophan
Histamine - Histadine
Sickle Cell Anemia
Structural change in RBC to ridged sickle shape.
decreased life of the RBC
Change in position 6 Glu for a Val
