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95 Cards in this Set
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3-β-hydroxy-steroid dehydrogenase deficiency?
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Salt excretion in urine
Can lead to prenatal masculinization of females (rare) |
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CYP 21 (common) or CYP 11B (rare) deficiency?
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↓glucocorticoids (cortisol) & ↓mineralocorticoids (aldosterone)
=> ↑DHEA => Masculinization |
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CYP 17 deficiency?
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↓Cortisol & ↓DHEA
=> ↑Aldosterone => Hypertension |
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CPS 1 (Carbamoyl Phosphate Synthase 1) deficiency? (Hyperammonemia I)
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↑Ammonia & Neurological symptoms
Treatment: Dialysis, Phenylbutyrate - removes 2 NH4, Benzoic acid - removes 1 NH4, Low protein diet, Prevention of stress which induces catabolic state |
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OTC (Ornithine Transcarbamoylase) deficiency? (Hyperammonemia II)
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↑Ammonia & Orotic acid excretion in urine
OTC deficiency is X-linked Treatment: Dialysis, Phenylbutyrate - removes 2 NH4, Benzoic acid - removes 1 NH4, Low protein diet, Prevention of stress which induces catabolic state Enters Pyrimidine Pathway w/ CPS II (Carbamoyl Phosphate Synthase II) *Most common Hyperammonemia's |
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ASS (Argininosuccinate Synthetase) deficiency? (Citrullinemia)
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↑Citrulline excretion in urine
Treatment: Dialysis, Phenylbutyrate - removes 2 NH4, Benzoic acid - removes 1 NH4, Low protein diet, Prevention of stress which induces catabolic state |
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ASL (Argininosuccinate Lyase) deficiency? (Argininosuccinic Aciduria)
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↑Argininosuccinate excretion in urine
Treatment: Dialysis, Phenylbutyrate - removes 2 NH4, Benzoic acid - removes 1 NH4, Low protein diet, Prevention of stress which induces catabolic state |
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ARG (Arginase) deficiency? (Argininemia)
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↑Arginine excretion in urine
Treatment: Dialysis, Phenylbutyrate - removes 2 NH4, Benzoic acid - removes 1 NH4, Low protein diet, Prevention of stress which induces catabolic state |
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PKU (Phenyl Ketonuria)?
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PAH (Phenylalanine Hydroxylase) deficiency
↓Tyrosine levels and becomes essential AA ↑Phenylpyruvic acid, phenylacetate, phenyllactate excretion in urine ("mousey" or "cabbage" odor) Signs: Low IQ & seizures, "mousey" urine, ↑blood phenylalanine, ↓pigmentation of skin due to inhibition of tyrosine Treatment: Phenylalanine restriction (low protein, artificial sweetener aspartame), ↑Tetrahydrobiopterin (coenzyme) or Sapropterin (synthetic version) |
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Maternal PKU syndrome?
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↑Maternal blood phenylalanine during pregnancy causes microencephaly, mental retardation & heart defects in fetus
Treatment: Women must maintain low Phenylalanine during pregnancy if they have PKU, ↑Tetrahydrobiopterin (coenzyme) |
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Alkaptonuria?
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Homogentisitc acid oxidase deficiency
Homogentisitc acid deposits in cartilage & conn. tissue (Ochronosis) Homogentistic acid exreted in urine (brown/black discoloration) Delayed onset ≈ 35040 yrs. Treatment: Dietary restrictions of phenylalanine & tyrosine may ↓homogentisitic acid deposits |
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Tyrosinosis?
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Fumaryl acetoacetate hydrolase deficiency
Liver & renal failure Treatment: Possible dietary restrictions of phenylalanine & tyrosine |
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Maple Syrup Urine Disease?
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Branched chain α-keto acid dehydrogenase deficiency
Unable to breakdown Isoleucine, Leucine & Valine Ketosis & maple syrup urine odor Neurological symptoms b/c keto acids accumulate in csf Treatment: Dietary restrictions of branched chain amino acids, supplementation of dietary thiamine (coenzyme) |
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Methylmalonic Aciduria?
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Methylmalonyl CoA mutase deficiency
↑methylmalonic acid which causes metabolic acidosis Neurological symptoms, seizures, encephalopathy Treatment: Possible Vit. B12 (cobalamin) supplementation (coenzyme) |
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Homocystinuria?
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Cystathione β-synthase deficiency
↑plasma & urinary levels of homocysteine Homocysteine binds to conn. tissue and disrupts structure Discoloration of lens (ectopia lentis), skeletal abnormalities, mental retardation & premature arterial disease Treatment: PLP (B6 - pyridoxal phosphate) supplementation may help Confused w/ Marfan syndrome |
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Carcinoid Syndrome?
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Tumor of serotonin producing cells in GIT (APUD cells)
Cutaneous flushing, diarrhea, bronchospasm & ↑5-HIAA (degradation of serotonin) excretion in urin |
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Parkinsons's Disease?
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Loss of dopamine producing cells in basal ganglia
"TRAP" - Tremors, Rigidity, Acnesia (w/o movement), Postural instability Treatment: L-DOPA (converted to dopamine in brain) & Dopa decarboxylase inhibitors (prevents peripheral dopamine formation) |
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Pheochromocytoma?
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Overproduction of catecholamines
Headaches, sweating, tachycardia, hypertension ↑Urinary VMA (vanillyl mandellic acid - catecholamine degradation) & ↑urinary catecholamines Episodic Treatment: Remove tumor or blood pressure medication |
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SCID (severe combined immunodeficiency)?
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Adenosine deaminase (ADA) deficiency in lymphocytes
↓T cell & B cell immunity ↑Adenosine levels result in ↑dATP which inhibit ribonucleotide reductase = ↓rate of cell division in lymphocytes Treatment: bone marrow transplant or enzyme therapy |
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Orotic Aciduria?
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OPRT & OMP decarboxylase (UMP synthase) deficiency
Megaloblastic anemia & orotic aciduria Treatment: Administration of uridine improves anemia Confused w/ OTC deficiency of Urea cycle: NO hyperammonimia w/ Orotic aciduria and thus can't be OTC def |
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Tetrahydrobiopterin deficiency?
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Dihydrobiopterin synthase or Dihydrobiopterin reductase deficiency
hyperphenylalanine & ↓neurotransmitter synthesis (catecholamines & serotonin) Severe neurological problems Treatment: Dietary restrictions of Tetrahydrobiopterin, Enzyme supplementation |
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Acute intermittent porphyria (AIP)?
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HMB synthase or porphobilinogen deaminase deficiency
↑Porphobilinogen & ↑ALA Darkened after air or light, respiratory problems, highly agitated, NOT photosensitive *Barbituates stimulates CYP P450 & can worsen condition **Lead poisoning ↑ALA **AIP ↑ALA & ↑Porphobilinogen High carb/glucose diet may help and possibly meds |
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Porphyria cutanea tarda (PCT)?
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Uroporphyrinogen decarboxylase deficiency
Red urine due to ↑uroporphyrin III & clinically expressed by iron overload or sunlight (photosensitive) Inherited as autosomal dominant trait OR acquired PCT by hepatitis, ethanol abuse |
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Neonatal jaundice of newborn?
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UDP-glucuronyl-transferase is low but increases w/ time (enzyme used to degrade bilirubin which is normally done by mother)
Premature babies require phototherapy b/c UDPGT activity is even lower Immature blood-brain barrier creates risk of bilirubin in developing brain Kernicterus - staining of basal ganglia & CNS stuctures from jaundice and aften results in neural damage Treatment: Phototherapy |
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Crigler-Najjar Syndrome (Type I)?
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UDPGT is ABSENT
Intense jaundice in first days of life and persists thereafter Treatment: Blue light, blood transfusions & calcium compunds (w/ age phototherapy become less effective & often results in brain damage) |
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Crigler-Najjar Syndrome (Type II)?
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UDPGT less than 10% normal activity
Later onset, jaundice may not appear till infancy or childhood Jaundice but not severe liver damage or brain changes Treatment: Blue light therapy dependent on severity, Phenobarbital for enzyme induction |
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Gilbert's Syndrome?
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UDPGT is 50% of normal activity
Mild & temporary ↑blood bilirubin sometimes triggered by fasting or infection |
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Hemolytic, pre-hepatic jaundice?
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Hemolysis leads to ↑blood unconjugated bilirubin
↑Urobilinogen in intestine ↑Urobilinogen in urine but NO bilirubin |
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Hepatocellular, intra-hepatic juandice?
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Common w/ hepatitis (drugs, alcohol, viral), cirrhosis or liver tumors
↑Unconjugated & Conjugated bilirubin & urin bilirubin Conjugated bilirubin is released by kidneys (deep orange, brown urine) |
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Obstructive, post-hepatic juandice?
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Bile relase into intestine is obstructed by gallstones or pancreatic tumor
↑conjugated bilirubin in blood & urine ↓Urobilinogen in intestines (pale feces) |
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Liver damage?
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↑sAST/sALT ratio larger than 2
(sAST found in mito & cyto, sALT found only in cyto) |
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Pancreatitis (alcohol induced)?
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Lipase/amylase ratio in serum larger than 3
Fasting hypoglycemia found at ↑ethanol levels due to ↑NADH/NAD+ ratio in cytosol which interferes w/ usage of precursors for gluconeogenesis |
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Ketoacidosis?
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↑NADH in mito. inhibit TCA cycle & β-oxidation
↑3-hydroxybutyrate production as it is formed from acetoacetate & NADH |
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Dry Beriberi?
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TPP (thiamine pyrophosphate - B1) deficiency
Neurological problems b/c brain can't efficiently use glucose or ketones PDH complex not working & can't link TCA Treatment: Thiamine supplementation |
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Wet Beriberi?
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TPP (thiamine pyrophosphate - B1) deficiency
Cardiac problems as heart can't efficiently use lactate, FA or ketones Treatment: Thiamine supplementation |
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Wernicke-Korsakoff Syndrome?
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TPP (thiamine pyrophosphate - B1) deficiency
Often seen in alcoholics Rapid eye movement, unsteady gait & confusion Treatment: Thiamine supplementation |
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Pellagra?
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Niacin (B3) deficiency
3 D's: Dermatitis, Diarrhea, Dementia Treatment: Niacin supplementation *Hartnups Disease presents like Pellagra |
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PLP (pyridoxal phosphate - active form of B6) deficiency?
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General tiredness, irritability & depression
Peripheral neuropathy & convulsion Microcytic anemia can occur due to ↓ALA synthase activity |
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Microcytic anemia?
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↓synthesis of heme
Iron, copper or pyridoxine deficiency Lead poisoning inhibits ALA dehydratase (prophobilinogen synthase) and Ferrocheletase which are used for Heme synthesis |
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Macrocytic anemia?
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Cobalamin (B12) & tetrahydrofolate deficiency
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B12 deficiency?
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Caused by deficiencies in intrinsic factor or proteases
Beefy red tongue, methylmalonic acid in urine, symmetrical numbness & tingling of hands & feet, spastic gait, extreme irritability, dysfunction in taste vision and smell |
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Wilson's Disease?
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Defect in biliary copper excretion = ↑copper levels in brain, liver & eye
↓incorporation of copper into ceruloplasmin (major copper carrying protein in blood) Neuropsychiatric manifestations Kaiser-Fleischer Rings - copper deposition |
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Meneke's Syndrome?
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Deficiency in copper absorption from GI
X-linked (rare) Damage occurs in utero ↓copper leads to aneurisms b/c lysyl oxidase needs copper & leads to cerebral dysfunction as well |
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Hereditary hemochromatosis?
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Genetic defect resulting in iron overload
Leads to lifelong iron accumulation Cirrhosis, skin pirmentation (slate-grey) & diabetes mellitus due to damage of pancreas |
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Hemorrhagic disease (HDN)?
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Deficiency of blood clotting due to vit. K deficiency in newborn
Liver not ready for prothrombin synthesis Treatment: Vit. K injection |
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Rickets?
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Deficiency of Vit. D leads to continued formation of collagen matrix of bone but incomplete mineralization leading to soft bones
Nutritional rickets - incomplete mineralization or demineralization of bone Renal rickets - renal failure ↓Calcitriol production (treat w/ calcitriol) Hypoparathyroidism - ↓hormone leads to hypocalcemia & hyperphosphatemia |
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Cystic fibrosis?
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Impaired fluid & electrolyte secretion results in luminal dehydration & production of thick, sticky mucus
Exocrine pancreatic insufficiency due to thick secretions leading to obstruction and eventually fibrotic & fatty pancreatic parenchyma 3 C's: CFTR (cystic fibrosis transmembrane regulatory protein) protein mutation cAMP-dependent Cl-channel CFTR is member of ATP binding cassete |
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Cholera?
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Bacterial infection primarily affecting small intestine
Profuse watery diarrhea & vomiting Treatment: antimicrobials, replace fluids, correct metabolic acidosis & hypokalemia Na+-K+ ATPase & Na+/glucose co-transporters are unaffected and coupled reabsorption of glucose & Na+ by passes defect from cholera toxin |
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Hereditary spherocytosis?
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Spherical red blood cells (fragile & ↓flexibility leading to being trapped in sleen, lysing and causing hemolytic anemia)
Spleenomegaly, Hemolysis leading to hyperbilirubinemia & iron overload |
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Duchenne Muscular Dystrophy?
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No dystrophin at all (anchors cytoskeleton of muscle cells to extracellular matrix)
X chromosome mutation preventing dystrophin production - affecting smooth, skeletal, cardiac & brain |
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Becker Muscular Dystrophy?
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Mild form of Duchenne muscular dystrophy
Similar symptoms but later and course of disease is milder Mutation in dystrophin gene ↓Dystrophin or abnormal dystrophin (anchors cytoskeleton of muscle cells to extracellular matrix) |
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Rett Syndrome?
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Mutation of the X-linked gene - methyl-cytosine binding protein 2 (MeCP2)
Lose of speech and hand skills, seizures, repetitive hand movements, irregular breathing and motor control problems Normal child development until 6-18 months Rarely occurs in boys |
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Prader-Willi syndrome?
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Paternal deletion and maternal imprinting (missing) Snrpn gene on chromosome 15
Hypotonia, rapid weight gain, round face, almond shaped eyes, hypogonadism, behavior problems, voracious appetite (↑ghrelin), skin picking, short stature and hypopigmentation |
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Angelman syndrome?
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Maternal deletion and paternal imprinting (missing) UBE3A gene on chromosome 15
"Happy puppet" syndrome, holding hands in funny puppet way, always smiling and happy, severe developmental delay, little or no speech, movement or balance disorder, ataxia, seizures, hyperactive, wide mouth |
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Hemophilia A (Classic Hemohilia)?
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Deficiency of factor VIII
X-linked recessive Almost exclusively in males |
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Hemophilia B (Christmas disease)?
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Deficiency of factor IX
X-linked recessive |
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Hemophilia C?
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Deficiency of factor XI
Autosomal dominant (males or females) High prevalence among Ashkenazi Jews Much rarer than A or B |
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Von Willebrand Disease?
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Deficiency of vWF (Von Willebrand Factor activates platelet adhesion and binds factor VIII)
Autosomal recessive or dominant Most common hereditary bleeding disorder |
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Bernard-Soulier Syndrome?
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Defect or deficiency of GPIb (receptor for vWF), thus lack of formation of primary platelet plug and ↑bleeding tendency
Autosomal recessive |
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Cystinuria?
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Deficiency of cytine transporter causing decreased reabsorption of cystine, ornithine, arginine and lysine ("COAL")
Cystine excreted in urine and tends to precipitate in renal tubules (cystine stones) One of causes of renal stones in children |
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Hartnup's disease?
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Defect in transport of neutral amino acids like tryptophan
↓dietary absorption and ↑excretion of tryptophan Tryptophan is an essential amino acid and precursor for NAD which when deficient can cause Pellagra |
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Lesch Nyhan syndrome?
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Complete absence of HGPRT (hypoxanthine guanine phosphoribosyl transferase)
Purine bases are NOT reused, and there is ↑degradation of purines to form uric acid Hyperuricemia, behavioral disturbances (self mutilation), orange-colored crystals in childs diaper, uric acid deposits in joints and soft tissue |
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Hyperuricemia (Gouty arthritis)?
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Causes:
Underexcretion of uric acid: Renal disease, Lactic acidosis (urate competes w/ lactate for excretion) Overproduction of uric acid: Mutants of PRPP (phosphoribosyl pyrophosphate - purine nucleotide biosynthesis, ↑Vmax & ↓Km), Deficiency of HGPRT (Lesch Nyhan syndrome - defect in purine salvage pathway), Von Gierke's disease (lactate competes w/ urate for excretion) Treatment: Allopurinol (inhibits xanthine oxidase & ↓formation of uric acid), ↓intake of meats & alcohol (rich sources of purines), underexcreters may take uricosuric agents to ↑excretion of uric acid |
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Kernicterus?
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↑unconjugated bilirubin can cause brain damage
Bilirubin can be displaced from albumin by high dose asprin (or sulfonamides) - especially dangerous for infants Yellow sclera/skin of face/chest/palms of hands & feet, ↑lethargy, refusal to eat, weak muscle tone, often fever and seizures, high pitch cry, deafness |
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Alcohol induced hepatitis by acetaldehyde?
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Binding to GSH leads to ROS damage in mito & lipid peroxidation
Liver damage due to alcohol: sAST/sALT ratio > 2 Impaired protein release (blood clotting factors and albumin), impaired secretion of VLDL leads to fatty steatosis (acute being hyperlipidemia, chronic disease leads to VLDL accumulating in liver) |
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MCAD deficiency?
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Medium0chain acyl-CoA dehydrogenases (MCAD) are needed to degrad long-chain fatty acyl-CoA during β-oxidation in mitochondria
Common in infants 3-24 months of age, during fasting leads to severe hypoglycemia & hypoketonemia, hyperammonemia due to liver damage, vomiting, lethargy, seizures, "metabolic crisis" Medium-chain acylcarnitines found in blood test & medium-chain acylglycine found in urine test Presents like Reye syndrome or SIDS (sudden infant death syndrome) Treatment: avoidance of fasting and uncooked cornstarch |
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Xeroderma Pigmentosum?
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Seven different forms, all affecting the DNA repair system and the ability to repair UV damage
Sensitive to UV light,dry skin, atrophy of dermis, ulcerated corneas & skin cancer usually develops Autosomal recessive trait |
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Barth Syndrome (BTHS)?
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Cardiolipin (CL) deficiency (CL is found in inner mitochondrial membrane)
Cardiomyopathy (dilated or hypertonic), neutropenia, underdeveloped skeletal musculature, muscle weakness, exercise intolerance X-linked trait Treatment: Linoleic acid supplementation restores cardiolipin levels |
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SLOS (Smith-Lemli-Opitz Syndrome)?
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Deficiency of 7-dehydrocholesterol reductase
Distinctive facial features, microcephaly, mental retardation or learning disabilities Autosomal recessive |
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Hyperlipidemia Type I (rare genetic)?
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Genetic deficiency of LPL or apo C-II
High levels of chylomicrons in fasting blood |
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Hyperlipidemia Type IIa FH (common)?
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Familial Hypercholesterolemia
Defective LDL-receptors High LDL Normal VLDL |
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Hyperlipidemia Type IIb FCH (common)?
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Familial Combined Hyperlipidemia
Very complex: defective LDL receptors? overproduction of apo B-100 or VLDL? High LDL and VLDL |
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Hyperlipidemia Type III - Dysbetalipoproteinemia (rare)?
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Apo E deficiency
High VLDL & IDL, leading to high blood cholesterol levels from IDL |
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Hyperlipidemia Type IV (common)?
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LPL deficiency, Overproduction of VLDL
High VLDL |
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Hyperlipidemia Type V (rare)?
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High VLDL & chylomicrons
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Homozygous Familial Hypercholesterolemia?
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Very high LDL levels
Cutaneous xanthomas & atherosclerosis occur in childhood Treatment: possible LDL removal from blood |
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Tangier disease?
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Deficiency of ABC 1 transporter and imparied release of cholesterol
Apo A-1 is degraded leading to very low HDL levels in blood Orange-colored tonsils, enlarged liver and spleen |
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Cushing's syndrome (hypercortisolism)?
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Hyperfunction of adrenal cortex, usually due to adrenocortical tumor
High cortisol & low ACTH Glucocorticoid excess leads to protein loss and characteristic fat distribution in face, neck and truncus |
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Cushing's disease?
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Possible tumor of Ant. pituitary
High cortisol & ACTH Rapid weight gain, central obesity, rat pads along collar bone on back of neck, round face |
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Addison's disease (primary adrenal cortical insufficiency)?
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Adrenal cortex atrophy, due to disease (mostly by autoimmune destruction)
Low Aldosterone & cortisol levels & high ACTH Hyperpigmentation, failure to thrive, muscle weakness, weight loss, salt craving, vomiting, constipation Treatment: oral analogues of aldosterone and cortisol |
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Syndrome X (Metabolic syndrome)?
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Any 3 gives metabolic syndrome:
Central Obesity Insulin Resistance (impaired glucose tolerance) Type 2 Diabetes (Insulin resistance) Cardiovascular disorders (Dyslipidemia, Atherosclerosis, Hypertension) Polycystic ovarian disease |
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Marasmus?
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Decreased energy intake
Time course: months to yrs Clinical features: Starved appearance, weight < 80% standard for height, skinfold < 3mm, mid-arm muscle circumference < 15cm Mortality: Low Diagnostic Criteria: Triceps skin fold < 3mm, mid-arm circumference < 15cm |
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Kwashiorkor?
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Decreased protein intake during stress state
Time course: Weeks Clinical features: Edema, well-nourished appearance, easy hair pluckability Laboratory findings: serum albumin < 2.8g/dl, TIBC < 200μg/dl, Lymphocytes < 1500/mm3 Clinical course: Infections, poor wound healing, pressure sores, skin breakdown (skin lesions) Mortality: High Diagnostic Criteria: Serum albumin < 2.8g/dl, one of following (Edema, poor wound healing or skin breakdown, easy hair pluckability) |
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Type I diabetes?
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Insulin dependent diabetes mellitus (IDDM)/Juvenile onset diabetes mellitus
Autoimmune destruction of β-cells of islet of pancreas, resulting in destruction of islet cells and reduction in insulin secretion Presents during adolescence (young adults) |
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Type II diabetes?
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Non-insulin dependent diabetes mellitus (NIDDM)
Obesity (Syndrome X) is risk factor for Type II diabetes and insulin resistance Target tissues for insulin (liver, skeletal muscle & adipose tissue) don't respond to circulating insulin & results in ↓of insulin secretion w/ time (β-cell fatigue) |
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Frank diabetes?
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Insulin resistance & ↓in insulin production by β-cells w/ time
Commonly seen in children w/ Type II diabetes - Maturity Onset Diabetes in the Young (MODY) |
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Hyperglycemia?
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High blood glucose
Causes: Too much food, too little insulin or diabetes pills, illness or stress Symptoms: Extreme thirst (polydipsia), need to urinate often (polyuria), dry skin (dehydration), hungry (polyphagia), blurry vision, drowsy, slow-healing wounds |
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Diabetic ketoacidosis?
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Insulin deficiency results in uncontrolled adipose tissue lipolysis → ↑β-oxidation resulting in formation of acetyl CoA used for ketone synthesis → Bicarbonate levels fall as they are used for buffering metabolic acidosis (ketones) → Respiratory compensation ↑rate & depth of ventilation (hyperventilation) → Ketone bodies lost through urine (ketonuria) & lungs (acetone - "fruity odor")
↑blood glucose levels results in ↑H2O loss |
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Hypoglycemia?
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Decrease in blood glucose levels (below 60mg/dL)
Adrenergic symptoms: sweating, trembling, palpitations Neuroglycopenic manifestations: lethargy, confusion, seizures, coma Blood glucose levels below 50mg/dL is a "Medical Emergency" Causes: Too little food, skipping meals, too much insulin, diabetes pills more active than usual Symptoms: shaky, fast hearbeat, sweating, dizzy, anxious, hunry, blurry vision, weakness or fatigue, headache, irritable |
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Steatorrhea?
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Excess fat in feces
Loss of lipid soluble vitamins & essential fatty acids Strong feces smell Possible causes: *Lack of conjugated bile salts (liver damage or bile duct obstruction by gallstones or due to liver cirrhosis) *Defects related to pancreatic juice (deficiency of enzymes, lack of transport of enzymes into intestines like in CF, or to lack of bicarbonate secretion which would impair the adjustment of pH in duodenum) *Defective mucosal cells related to uptake of nutrients or shorten bowel |
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Amanita phalloides (The Death Cap Mushroom)?
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Produces toxin called alpha-amanitin which is a potent inhibitor of RNA polymerase II
4 clinical phases of poisoning: 1) Asymptomatic phase 2) Gastrointestinal phase (1-2 days) - severe diarrhea & vomiting 3) Apparent recovery phase - few symptoms 4) Hepatic phase - renal & liver failure Treatment: gastrointestinal decontamination, high dose penicillin (inhibits amanitin activity in liver), liver transplant |
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Respiratory acidosis?
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↓rate of respiration, ↓lung function, ↓air entry into lungs
CO2 is not washed out resulting in ↑PCO2 Acute stage: pH is decreased ( < 7.36 ), PCO2 is elevated, HCO3 is almost normal Compensated respiratory acidosis: Kidney's excrete more H+ & ↑HCO3 levels, ↑excretion of phosphate & ammonia in urine...Thus: pH normalizes, PCO2 elevated (primary defect not corrected), HCO3 elevated (renal compensation) |
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Respiratory alkalosis?
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↑rate of respiration, ↑washout of CO2, ↓PCO2 (primary defect)
Acute stage: ↑pH ( >7.44 ), ↓PCO2 ( <35mmHg ), HCO3 almost normal Compensated respiratory alkalosis: ↑excretion of HCO3 (serum HCO3 falls)...Thus: pH normalizes, ↓PCO2 (primary defect - hyperventilating), ↓HCO3 (renal compensation) |
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Metabolic acidosis?
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↓HCO3 (low due to ↑nonvolatile acids such as buffering or ↑loss of HCO3) & low pH
Acute stage: ↓pH ( <7.36 ), PCO2 almost normal ( <40mmHg ), ↓HCO3 (primary abnormality) Compensated metabolic acidosis: ↑respiration (washout of CO2 → ↓PCO2), ↑HCO3 by renal system...Thus: ↓pH ( <7.36 ), ↓PCO2 due to hyperventilation ( <35mmHg ), ↓HCO3 (primary abnormality) Causes of metabolic acidosis: *↑ production of non-volatile acids: Diabetic ketoacidosis, Lactic acidosis, Chronic renal failure *↑loss of HCO3 (base): Diarrhea, Renal tubular acidosis (failure to secrete H+ & reabsorb HCO3) |
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Metabolic alkalosis?
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↑HCO (relative excess of HCO3)
Acute stage: ↑pH ( >7.44 ), ↑HCO3 ( >25mmol/L - primary abnormality), PCO2 almost normal Compensated metabolic alkalosis: ↑pH inhibits respiratory center & ↓respiration (hypoventilation), ↓CO2 washout leads to ↑PCO2, ↑HCO3 by renal system...Thus: ↑pH, ↑HCO3 (primary abnormality), ↑PCO2 (compensatory mechanism) Causes: vomiting, nasogastric suction, excessive consumption of antacids |
