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DM > Clinical Correlates > Flashcards

Clinical Correlates Flashcards

1
Q

Congenital Hypertrophic Plyoric Stenosis

A
  • Pyloric canal lumen narrowing due to pyloric muscle hypertrophy
  • Clinical Presentation: Vomiting (not bile stained), presents ~3weeks-5months
  • Physical Exam: Pyloric mass (olive-shaped), peristaltic waves
  • Imaging: Barium Swallow shows defect in pyloric sphincter filling
  • Ultrasound: Thickening of pyloric sphincter
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2
Q

Duodenal Stenosis

A
  • Partial lumen occlusion due to incomplete recanalization

- Clinical presentation: Vomiting (bile stained if stenosis is distal to bile duct opening)

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3
Q

Duodenal Atresia

A
  • Complete lumen occlusion due to incomplete recanalization
  • Clinical presentation: Polyhydramnios, Vomiting beggining immediately after birth
  • Imaging: Double Bubble sign - 1 air bubble in Stomach & 1 air bubble in Proximal Duodenum
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4
Q

Annular Pancreas

A
  • Causes Duodenal obstruction

- Due to bifid ventral pancreatic bud

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5
Q

Abnormalities of Midgut Rotation

A
  • Non-rotation: Small intestine lies right (instead of left), Asymptomatic
  • Reversed rotation: Clockwise rotation (instead of Counterclockwise), Duodenum lies anterior (instead of posterior) to Transverse Colon, SMA compressing Transverse Colon
  • Subhepatic Cecum & Appendix: Cecum adhered to Liver & doesn’t descend into Iliac Fossa
  • Mixed Rotation & Volvulus: Cecum lies inferior to Pylorus & fixed to posterior abdominal wall, May cause Duodenal Obstruction
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6
Q

Non-Rotation of Midgut Abnormality

A
  • Caudal Limb returns 1st (instead of Cranial end)
  • Small Intestine lies right (instead of left)
  • Generally asymptomatic
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7
Q

Reversed Rotation of Midgut Abnormality

A
  • Midgut loop rotates clockwise (instead of counterclockwise)
  • Duodenum lies anterior to Transverse Colon (instead of posterior)
  • SMA compresses Transverse Colon
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8
Q

Sub-hepatic Cecum & Appendix of Midgut Abnormality

A
  • Cecum adhered to Liver & doesn’t descend into Iliac Fossa

- May cause difficulty in Appendicitis diagnosis

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9
Q

Mixed Rotation & Volvulus of Midgut Abnormality

A
  • Cecum lies inferior to Pylorus & is fixed to posterior abdominal wall
  • May cause Duodenal obstruction
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10
Q

Omphalocele

A
  • Embryological defect

- Due to persistance of abdominal herniation covered by fetal membranes

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11
Q

Umbilical Hernia

A
  • Embryological defect
  • Due to incomplete closure of Umbilical Ring
  • Not covered by fetal membrane
  • May contain Omentum & small portions of Small Intestines
  • Clinical presentation: Soft swelling covered by skin, protudes during cry/cough/strain, easily reduced through fibrous ring at umbilicus
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12
Q

Gastroschisis

A
  • Due to incomplete closure of lateral folds during 4th week of development (defect near median plane of abdominal wall)
  • Clinical presentation: Viscera protrudes into amniotic cavity
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13
Q

Meckel’s Diverticulum

A
  • Finger-like projection from Ileum
  • Due to retention of Omphaloenteric Duct
  • Clinical presentation: “Rule of 2s” - 2 problems (Appendicitis & Peptic Ulcer), 2 secretory tissues (Gastric & Pancreatic), 2 inches long, 2 feet proximal to Ileocecal Junction, 2x more likely in males than females, 2% of population
  • Features: Periumbilical pain & internal bleeding
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14
Q

Umbilical Fistula

A
  • Due to patent Omphaloenteric Duct
  • Forms communication between Umbilicus & Intestinal Tract
  • Clinical presentation: Fecal discharge at Umbilicus, infection at Umbilical Stump
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15
Q

Low Anorectal Malformation

A
  • Rectum ends inferior to Puborectalis Muscle
  • Clinical features: No anal opening, abnormal opening into Perineum, Anal dimple/stenoitic opening, Anus buldge
  • Examples: Anal Stenosis, Membranous Atresia, Imperforate Anus
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16
Q

High Anorectal Malformation

A
  • Rectum ends superior to Puborectalis Muscle
  • Clinical features: Present as Fistulas that communicate with Urogenital system, flat Perineum, No pigmentation or Anal dimple, Males: Rectourethral/Rectovesical/Rectoprostatic, Females: Rectovestibular/Rectovaginal
  • Examples: Anorectal Agenesis with Fistula, Rectal Atresia
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17
Q

Anorectal Agenesis with Fistula

A
  • High Anorectal Anomaly
  • Due to incomplete separation of Cloaca from Urogenital Sinus by Urorectal Septum
  • Clinical features: Rectum ends blindly & Fistula, Anal Pit
  • Types: Rectovesicular - Fistula from Rectum to Bladder; Rectourethral - Fistula from Rectum to Urethra; Rectovaginal - Fistula from Rectum to Vagina; Rectovesibular - Fistula from Rectum to Vaginal Vestibule
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18
Q

Rectal Atresia

A
  • High Anorectal Anomaly
  • Due to recanalization of Colon or from defective blood supply
  • Clinical features: Anal Canal & Rectal Septum are both present but separated, intestinal segments connected by fibrous cord (remnant of atretic rectum)
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19
Q

Anal Stenosis

A
  • Low Anorectal Anomaly
  • Due to dorsal deviation of Urorectal Septum as it grows caudally
  • Clinical featuers: Narrowed Anal Canal
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20
Q

Membranous Atresia

A
  • Low Anorectal Anomaly
  • Due to failure of Epithelial Bulge to perorate (at 8th week) - Persistant Anal Membrane
  • Clinical features: Anal Pit, thin layer of tissue separates Anal Canal from External environment, Epithelial Anal Plug remnant budges on straining & appears blue (due to superior Meconium)
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21
Q

Imperforate Anus

A
  • Low Anorectal Anomaly
  • Clinical features: Anal pit, Ectopic Anus/Anal Canal ends blindly/Anoperineal Fistula/Anovaginal Fistula/Anourtheral Fistula
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22
Q

Hirschspring Disease/Congenital Megacolon

A
  • Due to failure of Neural Crest Cell migration (during weeks 5-7)
  • Clinical features: Dilated proximal Large Intestine, Aganglionic narrow segment with no Peristalsis
  • Cause of Neonatal Intestinal Obstruction
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23
Q

Wernicke-Korsakoff Syndrome

A
  • Thiamine/Vit B1 deficiency causing low PDH activity (Pyruvate —> Acetyl Co-A)
  • Clinical features: Ataxia, Ophthalmoplegia, Memory loss, Cerebral hemorrhage, Confabulation (false memories)
  • At risk patients: Alocoholics & malnourished
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24
Q

Beriberi Disease

A
  • Thiamine/Vit B1 deficiency causing low PDH activity (Pytuvate —> Acetyl Co-A)
  • Wet type clinical features: Heart failure, decreased ATP, increased CO, dilated Cardiomyopathy
  • Dry type clinical features: Systemic muscle wasting, Polyneuritis
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25
Q

Pyruvate Dehydrogenase (PDH) Deficiency

A
  • Metabolic Effect: Increased blood Pyruvate, Alanine, & Lactic Acid, Decreased Acetyl Co-A & ATP production
    Clinical features: Lactic Acidosis, Neurologic defects, Myopathy, fatal at early age
  • Presenting facial features: Frontal prominence, wide nasal bridge, flared nares, long philtrum, brain malformations (Corpus callosum agenesis, cerebral & basal ganglia cysts)
  • Therapies: Dicholoracetate; Supplementation with Thiamine, Lipoic Acid, & Carnitine; High fat, low carb diet
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26
Q

Heavy Metal Poisoning

A
  • Lipoid Acid binds to heavy metals & inactivates PDH Complex
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27
Q

Perforation of Peptic Ulcer of Stomach along Posterior Wall

A

Blood collects in Lesser Sac which can then communicate with Greater Sac via Omental/Epiploic Foramen of Winslow

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28
Q

Pringle Maneuver

A
  • Compression of Hepatoduodenal Ligament

- Prevents blood flow into Liver

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29
Q

Leber’s Hereditary Optic Neuropathy

A
  • Defect in Complex 1
  • Characterization: Degeneration of Retinal Ganglion cells, Atrophy of Optic nerve, usually begins around 25-35, leads to legal blindness
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30
Q

Deafness Induced by Aminoglycoside Antibiotics

A
  • Caused by Mitochondrial rRNA
  • Characterization: Moderate to porfound hearing loss Hearing loss occurs within days to weeks after aminoglycoside administration, mutation may cause predisposition to aminoglycoside toxicity
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31
Q

Mitochondrial Myopathies

A
  • Muscle Disease

- Includes: Kearns-Sayre Syndrome, MELAS, MERRF

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32
Q

Kearns-Sayre Syndrome

A
  • mtDNA deletion
  • Characterization: Onset before 20 years old, eye muscle paralysis, Retina degradation, CHF, muscle weakness, Ataxia, Diabetes, Dementia, Mental illness, Progressive External Ophthalmoplegia
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33
Q

MELAS Syndrome

A
  • Mitochondria myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes
  • Due to mutation in mitochondrial tRNA
  • Clinial features: Strokes, myopathy, muscle twitching, dementia, deafness
  • Characterization: Occurs with 1st stroke-like episode at 14-15 years old, Lactic Acid accumulates in blood & is toxic to brain
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34
Q

MERRF Syndrome

A
  • Myoclonic Epilepsy, Ragged Red Fibers
  • Mutation in mitochondrial tRNA
  • Characterization: Onset around 6-16 years old
  • Clinical features: Myoclonus (1st symptom), seizures, muscle weakness, worsening eyesight, hearing loss
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35
Q

Perforated Peptic Ulcer

A
  • Clinical Presentation: Sudden & severe abdominal pain, abdominal rigidity (peritoneal irritation), “free air” under Diaphragm/Pneumoperitoneum, excessive bleeding (maybe)
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36
Q

Peptic Ulcers

A
  • Most common location: Duodenal Bulb (1st part)
  • Secondary site: Stomach lesser curvature
  • Artery invasion: Gastroduodenal Artery or branches of Posterior Superior Pancreaticoduodenal Artery
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37
Q

Posterior Perforation of Stomach

A

Contents spill into Lesser Sac/Omental Bursa

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38
Q

Anterior Perforation of Stomach

A

Contents spill into Greater Sac

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39
Q

Small Bowel Obstruction

A
  • Usually centrally located
  • Imaging: “Stacks of coins” - Plica Semilunaris (lines continuous from luminal wall to luminal wall)
  • Clinical features: Increased intra-luminal gas, nausa/vomiting, abdominal distention, increased bowl sounds on physical exam, no passage of gas per Rectum
  • Characterization: Obstruction causes proximal tube dilation & distal tube flattening
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40
Q

Large Bowel Obstruction

A
  • Located in Periphery
  • Imaging: Presence of Haustra
  • Clinical features: Increased intra-luminal gas, nausa/vomiting, abdominal didstension, increased bowel sounds on physical exam, obstipation (no gas passager per rectum)
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41
Q

Portal Hypertension

A

PortoCaval Anastomoses between Superior, Middle, & Inferior Rectal Veins becomes Varicosed

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42
Q

Hematochezia

A
  • Passage of fresh blood per Anus, usually in/with Stools

- Due to Portal Hypertension

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43
Q

Diverticulosis

A
  • Colonic mucosa/submucosa hernitation through muscle
  • Location: Sigmoid Colon (generally)
  • Radiology: Diverticulum seen of Barium Enema & Colonoscopy
  • Labs: Anemia or positive stool Guaiac Test
  • Clinical features: Left lower abdominal pain, abdominal tenderness & distention, fever, painless rectal bleed
  • Complications: May lead to Diverticulitis (infection) & Peritonitis/Fistula (rupture)
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44
Q

Sigmoid Volvulus

A
  • Colon obstruction due to Sigmoid Colon twisting around Mesentery
  • Radiology: Double loop obstruction, “coffee bean” sign, no gas seen in rectum
  • Clinical features: Abdominal pain, nausea/vomiting, constipation, small/large bowl obstruction symptoms
  • Complications: Colonic Ischemia, Colonic Perforation, Peritonitis
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45
Q

MODY-2

A
  • Maturity Onset Diabetes of the Young, Type 2
  • Characterization: Impaired Insulin secretion from pancreatic B-cells, Glucokinase deficiency
  • Clinical features: Chronic mild fasting Hyperglycemia without overweight/metabolic syndrome
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46
Q

Liver Cirrhosis

A
  • Progressive destruction of Hepatocytes & replacement by fibrous tissue
  • Blood flow disruption & decreased hepatocyte function
  • Causes: Fatty Liver Disease, Toxins, Infections
  • Appearance: Nodular - due to fibrosis
  • Clinical features: Firmness (due to fibrous tissue), impeding blood circulation
  • May lead to Portal Hypertension
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47
Q

Pringle Maneuver

A
  • Clamping of the Hepatoduodenal Ligament of the Liver to prevent bleeding from the Proper Hepatic Artery
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48
Q

Gallstones

A
  • Common in fat, fertile, female of 40
  • May be asymptomatic
  • May produce Colic (SM spasm to expel stones) or Acute Cholecystitis (subdiaphragmatic parietal peritoneum irritation by Phrenic Nerve, right upper quadrant pain)
  • Jaundice (biliary tree obstruction & backup of bile)
  • Location: Ampulla (pancreatitis), Hepatic Duct (No bile), Cystic Duct (bile, acute cholecystitis), Major Duodenal Papilla (bile, jaundice, acute cholecystitis, acute pancreatitis)
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49
Q

Portal Hypertension

A
  • Hepatic Portal Vein obstruction
  • Portocaval Shunt: Reduces Portal Hypertension by diverting blood from Portal Venous System to the Systemic Venous System through creating a shunt between the Portal Vein & IVC/Splenic Vein & Left Renal Vein
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50
Q

Von Dierke Disease

A
  • Type I Glycogen Storage Disease
  • Enzyme Deficiency: G6Pase
  • High Glycogen levels with normal structure
  • Clinical Features: Hepatomegaly, Progressive Renal Disease, Severe fasting Hypoglycemia (no glucose increase with Glucagon/Epi), Lactic Acidosis, Hyperuricemia, Hyperlipidemia, Failure to Thrive
  • Treatment: Avoid fasting, nocturnal nasogastric glucose infusions or uncooked cornstarch in water
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51
Q

Pompe Disease

A
  • Type II Glycogen Storage Disease
  • Enzyme Deficiency: Lysosomal Alpha 1, 4 Glucosidase (Acid Maltase)
  • High Glycogen levels with normal structure, & normal Glucose levels
  • Classification: GSD, LSD, MD
  • Clinical features: Cardiomegaly, Hepatomegaly, Myopathy, Hypotonia, Neuromuscular disorder, Elevated CK-MM
  • Treatment: Enzyme replacement therapy by infusion
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52
Q

Cori Disease/Forbes Disease/Limit Dextrinosis

A
  • Type III Glycogen Storage Disease
  • Enzyme Deficiency: Debranching Enzyme/4:4 Transferase
  • Classification: GSD & MD
  • Abnormal Glycogen structure with short outer branches
  • Clinical features: Hypotonia, Carbdiomyopathy, Hepatomegaly, Mild Hypoglycemia
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53
Q

Andersen Disease

A
  • Type IV Glycogen Storage Disease - Familial Cirrhosis
  • Enzyme Deficiency: Branching Enzyme/4:6 Transferase
  • Abnormal Glycogen structure: long Glucose chains & less branches
  • Clinical features: Hepatomegaly, Infantile Cirrhosis, Early dealth in childhood, Hypotonia, Cardiomyopathy
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54
Q

McArdle Disease

A
  • Type V Glycogen Storage Disease
  • Enzyme Deficiency: Myophosphorylase Isozyme
  • High Glycogen levels with normal structure & normal hepatic Isozyme
  • Clinical features: Weakness & Cramping after exercise, Myoglobinemia, Myoglobinuria
  • Diagnosis: Muscle Weakness Test - lower Lactate levels after exercise since Glycogen degradation is reduced & less Lactate formed
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55
Q

Hers Disease

A
  • Type VI Glycogen Storage Disease
  • Enzyme Deficiency: Hepatophosphorylase Isozyme
  • High Glycogen levels with normal structure, & normal Isozyme
  • Clinical features: Hepatomegaly, Growth retardation, Mild fasting Hypoglycemia
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56
Q

Tarui Disease

A
  • Type VII Glycogen Storage Disease
  • Enzyme Deficiency: PFK-1 M-subunit (Muscle, RBCs)
  • Normal Isozyme
  • Clinical features: Muscle cramping (Similar to McArdle Disease), Hemolysis
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57
Q

Benign/Essential Fructosuria

A
  • Deficiency: Liver Fructokinase
  • Accumulates: Fructose not metabolized & excreted in urine; No toxic accumulates
  • Clinical features: Asymptomatic
  • Urinalysis: Abnormal - Reducing sugar (not Glucose or Galactose)
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58
Q

Hereditary Fructose Intolerance

A
  • Deficiency: Aldolase B
  • Accumulates: Fructose 1-P
  • Diagnosis: Hypoglycemia folloiwng dietary fructose/sucrose, reducing sugar in urine, enzyme assays
  • Urinalysis: Abnormal - Reducing sugar (not Glucose)
  • Clinical features: Hypoglycemia (drowsy & apathetic) following trigger (sucrose or fructose), Hepatocellular failure, Jaundice, No Cataracts
  • Treatment: Avoid dietary fructose (fruits)
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59
Q

Classical Galactosemia

A
  • Deficiency: GALT (Galactose 1-P Uridyl Transferase)
  • Accumulates: Galctose & Galactose 1-P
  • Diagnosis: Newborn screening heel prick test
  • Urinalysis: Abnormal - Reducing sugar (not Glucose)
  • Clinical features: Liver Damage, Cataracts, Developmental Delay (Classical Triad), Jaundice, Hepatomegaly, Hypoglycemia, Vomiting after feeds, Failure to thrive, Brain damage
  • Treatment: Dietary exclusion of Galactose & Lactose, Soy-milk or Lactose-free milk substitute in place of breast milk, monitor Galactose 1-P levels
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60
Q

Non-Classical Galactosemia

A
  • Deficiency: Galactokinase
  • Urinalysis: Abnormal - Reducing sugar (not Glucose)
  • Clinical features: Cataracts
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61
Q

Alcohol Induced Hypoglycemia

A
  • Ethanol-mediated NADH increase in Liver
  • Gluconeogenesis intermediates divereted to alternate reaction pathways, resulting in decreased Glucose synthesis
  • Clinical features: Lactic Acidosis (Pyruvate —> Lactate), Malate Trapping (Oxaloacetate —> Malate)
  • More severe if person hasn’t eaten
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62
Q

Conditions that present with Hypoglycemia

A
  • Acute Alcohol Intoxication
  • GSDs (Von Gierke - Type I, Cori - Type III, Hers - Type VI
  • Hereditary Fructose Intolerance
  • Classical Galactosemia
  • Liver Fatty Oxidation Defect
  • Insulinoma
  • Addison Disease
  • Congenital Adrenal Hyperplasia (CAH)
  • Insulin Overdose
  • Sulfonylurea Overdose
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63
Q

Peptic Ulcers

A
  • Crater-like lesions due to loss of mucosal protection or increase acid secretion which leads to inflammation & necrosis
  • Common causes: H. Pylori Infection (Secretes Urease & Protease to breakdown mucus & create Alkaline env., stimulates Gatrin increasing Acid/Pepsid), Tobacco smoking, NSAIDs (inhibit Prostaglandins), Zollinger Ellison Syndrome (Gastrinoma)
  • Complications: Bleeding (erosion of base BVs), Perforation, Peritonitis, Macrocytic Pernicious Anemia
64
Q

Barrett’s Esophagus & Gastroesophageal Reflux Disease (GERD)

A
  • Gastric reflux back into lower esophagus
  • Cause: Weakened esophageal sphincter
  • Clinical features: Chest pain/burning
  • Complications: Metaplasia (simple columnar epithelium) & Dysplasia (adenocarcinoma)
65
Q

Malabsorption Syndrome

A
  • GI Tract Disease resulting in abnormal nutrient absorption
  • Causes: Mucosal damage (Celiac Disease, Tropical Sprue, VitB12 Malabsorption), Enzyme Deficiency (Disaccharidase deficiency, Pancreatic insufficiency), Infection, Short Intestine Structure, Chron’s Disease
  • Clinical feaures: Weight loss, Steatorrhea, Muscle wasting, Bloating/Flatulence/Diarrhea, Macrocytic Anemia (VitB12 or Folic Acid), Bleeding disorders, Bone pain/Tetany
66
Q

Celiac Disease

A
  • Gluten sensitive enteropathy; Autoimmune mediated Gliadin intolerance
  • Inflammation of disal Duodenum & proximal Jejunum
  • Histology: Villi atrophy & Crypt hyperplasia, Increased Lymphocytes & Plasma Cells in LP
  • Diagnosis: IgA antibodies for Transglutaminase, Endomysium, & Deaminated Gliadin peptide
  • Treatment: Gluten free diet
67
Q

Chron’s Disease

A
  • Ulcer formation
  • Mainly affecting terminal Ileum of SI but also LI & upper GI
  • Histology: Cobblestone appearance - Long fissure-like ulcers with normal mucosa in between & underlying inflammation, Granuloma formation with Giant cells
  • Complications: Fistulas, Fibrosis & Obstruction
  • Clinical features: Crampy abdominal pain, Malabsorption
68
Q

Appendicitis

A
  • Cause: Block of Cecum opening

- Clinical features: Scarring, thick mucus & stool

69
Q

Colonic Adenomatous Polyps/Adenomas

A
  • Intraepithelial Neoplasm
  • Dysplastic epithelium forms glands or villous processes
  • Clinical features: Usually asymptomatic, occult bleeding
  • Types: Tubular, Villous, Tubulovillous
70
Q

Congenital Megacolon/Hirschsprung Disease

A
  • Failure of Myenteric Plexus development in distal ailmentary canal
  • Clinical features: Functional obstruction (decreased peristaltic movements), Dilated colonic segment proximal to aganglionic region
71
Q

Congestive Heart Failure

A
  • Congestion: Blood backup in liver sinusoids due to decreased output of right side of heart
  • Hypoperfusion & Hypoxia: Decreased oxygenated blood to Liver due to decreased blood to/from left side of heart
  • Centrilobular Necrosis - in Zone 3 hepatocytes
72
Q

Hepatic Steatosis/Fatty Liver Disease

A
  • Causes: Chronic Alcholism or Metabolic Syndrome (Non-alcoholic fatty liver)
  • Appearance: Signet ring of hepatocyte
  • Clinical features: Increased intrahepatic lipid droplets, Hepatomegaly
  • Progression to Cirrhosis
73
Q

Acute Pancreatitis

A
  • Sudden Pancreas inflammation
  • Causes: Gallstones, Alcohol abuse
  • Due to pancreatic duct blockage by gallstone, temporary block (& damage) of pancreatic fluid
74
Q

Cystic Fibrosis

A
  • AR
  • Mutation in CFTR gene on chromosome 7
  • Abnormal epithelium transport of Cl- increases viscocity of exocrine gland secretion
  • GI Manifestations: Malabsorption Syndrome secondary to pancreatic dut obstruction, Pancreatitis, Fibrosis, Biliary tree obstruction by Gallstones, Malnutrition
  • Treatment: Pancreatic enzyme supplementation
75
Q

Systemic Fatty Acid Oxidation Disorders

A
  • Organs affected: Livder & MUscle
  • Includes: MCAD Deficiency, Carnitine Deficiency, CPT-I Deficiency
  • Clinical features: Hypoglycemia, Hypoketosis, Metabolic crisis following illness
76
Q

Myopathic Fatty Acid Oxidation Disorders

A
  • Organs affected: Muscle (skeletal & cardiac)
  • Includes: Myopathic Carnitine Deficiency, CPT-II Deficiency
  • Clinical features: Cramps during Aerobic exercise, Unable to perform Aerobic exercise
  • Labs: Elevated blood Lactate following ischemic exercise, Myoglobinuria, elevated serum CK-MM, Lipid droplets/elevated TAG in muscle biopsy
77
Q

MCAD Deficieny

A
  • Classification: Systemic FA Oxidation Disorder
  • Presentation: 6-24 months
  • Cause: Decreased oxidation of of Medium Chain FAs - Tissues (Liver, Muscle) can’t use FAs for energy, Impaired Gluconeogenesis (less ATP & Acetyl CoA)
  • Clinical features: Severe hypoglycemia (metabolic crisis) on fasting or illness, Hypoketoniemia
  • Labs: Medium chain acyl carnitines & Dicarboxilic acids in Urine
  • Treatment: IV Glucose, frequent feeding (high carb, low fat)
78
Q

Carnitine I Deficiency

A
  • Classification: Systemic FA Oxidation Disorder
  • Cause: Impaired Carnitine uptake into tissues, Impaired long-chain FAs into Mitochondria, Decreased Beta Oxidatoin
  • Presentation: Early
  • Clinical features: Hypoglycemia (impaired Gluconeogenesis) & Hypoketosis
  • Affects: Liver isoform
  • Treatment: IV Glucose, frequent feeding (high carb, low fat), Carnitine Supplements
79
Q

Carnitine II Deficiency

A
  • Classification: Myopathic FA Oxidation Disorder
  • Cause: Impaired Carnitine uptake into tissues, Impaired long-chain FAs into Mitochondria, Decreased Beta Oxidatoin
  • Clinical features: Muscle weakness, Cardiomyopathy, Cramps upon aerobic exercise
  • Labs: Elevated CK-MM, Myoblobin in Urine, Skeletal msucle damage, Lipids in muscle biopsy
  • Affects: Muscle isoform
  • Treatment: Cease muscle activity, Glucose & Carnitine supplements
80
Q

Jamaican Vomiting Sickness

A
  • Cause: Eating unripe Ackee fruit (Caribbean & African) which contains Hypoglycin A (MCAD inhibitor)
  • Clinical features: Hypoglycemia, Vomitng, Drowsiness, Coma, Death
  • Labs: Medium Chain Acyl Carnitines in urine
81
Q

Zellweger Syndrome

A
  • Defective peroxisomal biogenesis (liver & brain)
  • Labs: Increased C26 FAs
  • Clinical features: Neuro. manifestations, delayed development, extensive demyelination, Hepatomegaly, Hepatocellular failure, fatal in infancy
82
Q

Refsum Disease

A
  • Peroxisomal Phytanyl CoA Alpha-Hydroxylase deficiency - Alpha Oxidation Defect
  • Phytanate accumulation
  • Clinical features: Visual defects, Ataxia, Polyneuropathy, Skeletal Manifestations
  • Treatment: Restrict branched chain FAs (Phytanic Acid)
83
Q

Ketoacidosis in Uncontrolled Diabetes Mellitus

A
  • Uncontrolled DM —> Excessive AT Lipolysis —> HS Lipase very active
  • Labs: Ketonemia, Ketonuria, elevated 3-hydroxybutyrate & Acetoacetate in blood & urine
  • Clinical features: High anion gap metabolic acidosis, hyperventilation, Fruity breath odor
84
Q

Smith-Lemli-Optiz Syndrome (SLOS)

A
  • Deficiency of 7-Dehydrocholesterol Reductase - 7-DHC buildup & Cholesterol reduction
  • Due to loss of function mutations in DHCR7 gene
  • Clinical features: Heart defects, limb deformations, growth retardation, microcephaly, mental disability, ambiguous genitalia in males, high infant mortality rate
  • Treatment: Cholesterol administration (for help with growth)
85
Q

Cholesterol Gallstone Disease/Cholelithiasis & Biliary Disease

A
  • Precipitation of Cholesterol in bile within Gallbladder
  • Due to: Deficiency of Lecithin/Phosphatidylcholine &/or Bile Salts (Glycocholic or Taurochenodeoxycholic Acid)
  • Diagnosis: CT or Ultrasound
86
Q

Cholestatic Disease

A
  • Biliary obstruction of Small Bile Ducts or Extrabilliary Ducts
  • Clinical features: Steatorrhea, Lipid malabsorption, Jaundice (hyperbilirubinemia)
  • Cause: Hepatic dysfunction (decreased bile production), Increased Cholesterol secretion into Bile, Bile Acid malabsorption, Biliary tract obstruction, Enterohepatic circulation interruption
  • Treatment: Laparoscopic Cholecystectomy, Bile Acid (Chenodiol/Chenodeoxycholic Acid) administration, Disintegration of stones by shock waves, contact dissolution with methyl-tert-butyl-ether
87
Q

Acid Reflux

A
  • Due to insuffiencient/defective LES
  • Saliva neutralizes acid in Esophagus & induces 2ndary peristalsis for return to stomach
  • May lead to Gastro-Esophageal Reflux Disease (GERD) - Chronic reflux, diminished LES, Pyrosis/heartburn, mucosal damage
88
Q

Achalasia

A
  • Loss of peristalsis & failure of LES to relax properly
  • Cause: Autoimmune or infectional Ganglionic Cell destruction in Myenteric/Auerbach’s Plexus (Chagas Disease)
  • Clinical features: Difficulty swallowing/Dysphagia, Aspirate food, Malnutrition, Halitosis/bad breath, Nocturnal food regurgitation
  • Diagnosis: Manometry
  • Treatment: Nifedipine, Nitrates, Botox (reduce LES tone), Myotomy (surgery), endoscopic LES ballon dilation (surgery)
89
Q

Cystinuria

A
  • Cysteine reabsorption decreased, Cysteine excreted in urine & recipitates in renal tubules in tract - Renal Stones
  • Due to inherited transporter deficiency
  • Asymptomatic until breaking point
90
Q

Hartnup Disease

A
  • Decreased Tryptophan dietary absorption & increased excretion
  • Due to inherited defect in Tryptophan transport
  • Manifestations: NAD+ deficiency (Pellagra)
  • At risk: Low protein diet & lacking Niacin supplement
  • Clinical features: Diarrhea, Dermatitis, Dementia, Death
91
Q

Inherited Urea Cycle Disorders (UCDs)

A
  • Deficiency of enzyme resulting in enzyme substrate accumulation
  • Labs: Hyperammonemia (high blood Ammonia leveles), elevated Glutamine levels, decreased Urea formation
  • Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventiation, Neurological manifestations - Seizures, Intellectual Disability, Developmental Delay
  • Includes: Hyperammonemia Types I & II, Cirullinemia, Argininosuccinic Aciduria, Argininemia
  • Treatment: Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state, Arginine administration (except Argininemia)
92
Q

Hyperammonemia Type I

A
  • Inherited Urea Cycle Disorder (UCD)
  • Deficiency: CPS I
  • Labs: Hyperammonemia (most severes), low intermediates
  • Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventilation, Seizures, Intellectual Disability, Developmental Delay
  • Treatment: Arg. Supplementation, Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state,
93
Q

Hyperammonemia Type II

A
  • Inherited Urea Cycle Disorder (UCD)
  • Deficiency: OTC (Ornithine Transcarbamoylase)
  • Most common, usually seen in males, X-linked
  • Labs: Hyperammonemia, increased Orotic Acid urine excretion, Elevated Carbamoyl P, Increased Pyrimidine synthesis
  • Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventilation, Seizures, Intellectual Disability, Developmental Delay
  • Treatment: Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state, Arginine administration (except Argininemia)
94
Q

Citrullinemia

A
  • Inherited Urea Cycle Disorder (UCD)
  • Deficiency: Argininosuccinate Synthetase
  • Labs: Hyperammonemia, increased Citrulline levels in blood & urine
  • Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventilation, Seizures, Intellectual Disability, Developmental Delay
  • Treatment: Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state, Arginine administration (except Argininemia)
95
Q

Argininosuccinic Aciduria

A
  • Inherited Urea Cycle Disorder (UCD)
  • Deficiency: Argininosuccinate Lyase (ASL)
  • Labs: Hyperammonemia, increased Argininosuccinate in plasma & urine, elevated Citrulline
  • Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventilation, Seizures, Intellectual Disability, Developmental Delay
  • Treatment: Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state, Arginine administration (except Argininemia)
96
Q

Argininemia

A
  • Inherited Urea Cycle Disorder (UCD)
  • Deficiency: Arginase
  • Labs: Mild Hyperammonemia, Hyperargininemia/increased Arginine
  • Onset: Late/adult - Clinical features: Lethargy, Irritability, Feeding difficulties, Respiratory Alkalosis/Hyperventilation, Seizures, Intellectual Disability, Developmental Delay
  • Treatment: Dialysis, Benzoic Acid or Phenylbutyrate/Phenylacetate Administration, Low protein high carb diet, Liver transplant, Present stresses that induce catabolic state
97
Q

Phenylketonuria (PKU)

A
  • AR
  • Diagnosis: Guthrie test or Mass Spec
  • Clinical features: Milestone delay, Low IQ, Seizures, Spacticity, Autistic behaviors, mousey odor urine, decreased skin & hair pigmentation
  • Labs: Phenylpuruvate/Phenylacetate/Phenyllactate in urine
  • Treatment: Low Phenylalanine diet (modified medical food, low protein), avoid Aspartame (artificial sweetener), Sapropterin (synthetic BH4)
98
Q

Maternal PKU

A
  • Fetal defects: Microcephaly, neurological problems, congenital heart defects, facial dysmorphology (similar to fetal alcohol syndrome - long philtrum, epicantal folds, micrognathia, short nose, microopthalmia, flat midface)
  • Biochemical defect: Hydrobipterin synthesis/Dihydrobiopterin reductase deficiency (BH4) - needed for ring hydroxylation reactions
99
Q

Alkaptonuria

A
  • Inborn error of Phe-Tyr Catabolism
  • Deficiency: Homogentisic Acid Oxidase (Homogentisic acid —> Maleylacetoacetate)
  • Accumulation: Homogentisic Acid
  • Clinical features: Arthritis, darkening of urine on standing, blue discoloration of cartilage & CT (Sclera), Ochronotic pigments (HA deposits in cartilage & CT)
  • Treatment: Dietary restriction of Phe & Tyr
100
Q

Tyrosinosis

A
  • Tyrosinemia Type I
  • Inborn error of Phe-Tyr Catabolism
  • Deficiency: Fumarylacetoacetate Hydrolase
  • Accumulation: Fumarylacetoacetate
  • Clinical features: Kidney & Liver damage, caggage-like urine smell
  • Treatment: Dietary restriction of Phe & Tyr, Nitisinone (NTBC; inhibits PDO) therapy, Liver transplant
101
Q

Maple Syrup Urine Disease (MSUD)

A
  • Inborn error of metabolism - branched chain AA
  • Cause: BCK (Branched Chain Ketoacid) Dehydrogenase defect
  • Ketoacid increase are neurotoxic
  • Cofactor: TPP
  • Diagnosis: Neonatal/newborn screening
  • Mild & Secere forms
  • Clinical features: Hypotonia & Hypertonia (alternating), Seizures, Encephalopathy, Ketosis, Urine odor, Psychomotor developmental delay, progressive neurological disease, recurrent Ketoacidotic episodes
  • Treatment: 20% Glucose with Insulin IV (Acute), Dietary restriction of BCAAs (Long term), Thiamine supplementation, avoid catabolic states
102
Q

Methylmalonyl CoA Mutase Deficiency

A
  • Elevated Methylmalonic Acid levels in circulation
  • Labs: GC/MS urinary analysis
  • Clinical features: Metabolic Acidosis (Ketosis & Ketoacidosis), Seizures, Encephalopathy
  • Treatment: VitB12/Cobalamin supplementation, dietary BCAAs restriction/reduction
103
Q

Homocystinuria

A
  • Homocystein metabolism defect
  • AR
  • Deficiency: Cystathionine B-Synthase (Transulfuration Pathway)
  • Clinical features: Ectopia Lentis (Lens discoloration - down & in), Marfanoid Habitus (skeletal abnormalities), mental retardation, premature Arterial Disease, Osteoporosis, Atheromas (lipid deposits), Fibrosis & Plaque Calcification (lipid oxidation & platelet aggregation), limited joint mobility
  • Labs: High plasma & urinary Homocystine
  • Treatment: Oral VitB6/Pyridoxine, Dietary protein restriction, Met-free food, Met supplementaion, Oral Betaine-HCl
104
Q

Folate Deficiency

A
  • Reduction in 1-C donors —> reduced synthesis of Purine & Pyrimidine nucleotides
  • DNA synthesis delay —> reduced rates of cells division
  • Blood smear: Polysegmented neutrophils, Macrocytes, Megaloblasts
  • High risk groups: Pregnancy (neural tube defects), Chronic alcoholics, Veggie avoidance persons
  • Clinical features: Macrocytic & Megaloblastic Anemia
  • Diagnosis: Histidine load test - FIGLU in urine
105
Q

Vitamin B12 Deficiency

A
  • Labs: Increased Methylmalonate in circulation & urine, elevated Homocysteine, Folate Trap - Methyl THF
  • Clinical features: Macrocytic & Megaloblastic Anemia (Folate trap), Neuro. Damage (myelin), CV disease/hyperhomocysteinemia, tingling hand/feet, inability to walk, psychiatric disturbances, urinary incontinence
  • Risk factors: Strict Vegans, Atrophic Gastritis, Pernicious Anemia (parietal cell autoimmune destruction), Ileum Disease (TB, Chron’s)
106
Q

Acute Intermittent Porphyria / AIP

A
  • Deficiency: PBG Deaminase / HMG Synthase / Uroporphyrinogen I Synthase
  • Accumulate: ALA / Delta-Aminolevulinic Acid & Porphobilinogen / BPG
  • Clinical features: Severe abdominal pain, colic, constipation, lower extremity weakness, systemic arterial hypertension, agitated state, mental disturbance, tachycardia, respiratory problems, (not photosensitive)
  • Urinalysis: Increased ALA & Porphobilinogen levels - urine turns dark red/purple/black upon standing with contact with air or light
  • Risk factors: Heme synthesis drugs, infections, ethanol abuse, estrogen hormone therapy, caucasians, women 20-40
  • Treatment: Saline & IV Glucose / Hemin (reduce ALA-S1 expression), No Barbituates (stimualte CP450 leading to toxic ALA levels)
107
Q

Congenital Erthropoietic Porphyria / CEP

A
  • Deficiency: Erythroid Isozyme of Uroporphyrinogen III Synthase —> No HMG ring closure
  • Accumulation: Uroporphyrin I & Coproporphyrin I
  • Affecting organ: Bone Marrow
  • Clinical features: Skin Photosensitivity, poor wound healing, blisters, ulcers, reddish/brown teeth, Hypertrichosis (werewolf features - hairy arms & legs)
  • Urinalysis: Red colored urine
  • Onset: Childhood (AR)
  • Treatment: Bone marrow transplant, (Hemin IV not effective - ALA-S2 not inhibited)
108
Q

Porphyria Cutanea Tarda / PCT

A
  • Deficiency: Uroporphyrinogen III Decarboxylase
  • Accumulation: Uroporphyrin III accumulation
  • Affecting Organs: Liver, Blood, Skin
  • Clinical features: Photosensitivity, cutaneous lesions
  • Urinalysis: Urine is red upon release, light pink in fluorescent light
  • Onset: 40-50
  • Types: 1 - aquired due to chronic liver dx (hepatitis, ethanol abuse), 2 - familial
  • Treatment: Avoid sunlight & alcohol, reduce dietary Iron uptake
109
Q

Prehepatic/Hemolytic Jaundice

A
  • Increased RBC breakdown/decreased lifespan

- Labs: Increased total Bilirubin, Increased unconjugated Bilirubin, Increased Urobilinogen

110
Q

Hepatocellular Jaundice

A
  • Labs: Increased total serum Bilirubin, Increased serum conjugated Bilirubin, Increased serum unconjugated Bilirubin, Elevated AST & ALT, Bilirubin & Urobilinogen present in urine
111
Q

Posthepatic/Obstructive/Cholestatic Jaundice

A
  • Labs: Increased total serum Bilirubin, increased conjugated Bilirubin, absent/low Urobilinogen, urine Bilirubin present, decreased Sterocolbilin excretion in feces (clay colored), elevated APL & GGT
112
Q

Kernicterus

A
  • Jaundice in newborns
  • Serum Bilirubin >25 mg/dL
  • Unconjugated Bilirubin crosses underdeveloped blood-brain barrier & forms deposits in Basal Ganglia
  • Clinical features: Lethargy, altered muscle tone, high-pitched cry, neurologic symptoms - choreoathetosis, spasticity, muscular rigidity, ataxia, intellecual impairment
  • At risk: Hypoalbuminemia, low pH, drugs - Salicylates, Sulfonamides
113
Q

Cringler-Najjar Syndrome Type I

A
  • Inherited Unconjugated Hyperbilirubinemia
  • Low UDP Glucouronyl Transferase enzymatic activity: <5% (Most severe form)
  • Serum Unconjugated Bilirubin levels: 50 mg/dL
  • Clinical features: Jaundice in neonate/infant, Kernicterus & Developmental delay, fatal if untreated
  • Treatment: Phototherapy, exchange transfusion (to prevent Kernicterus) (Unresponsive to Phenobarbital)
114
Q

Crigler-Najjar Syndrome Type II / Arias Syndrome

A
  • Inherited Unconjugated Hyperbilirubinemia
  • Low UDP Glucouronyl Transferase enzymatic activity: 10%-20%
  • Serum Unconjugated Bilirubin levels: 6-22 mg/Dl
  • Clinical features: Jaundice
  • Treatment: Phenobarbital, regular phototherapy
115
Q

Gilbert Syndrome

A
  • Inherited Unconjugated Hyperbilirubinemia
  • UDP Glucouronyl Transferase enzymatic activity: 50%
  • Serum Unconjugated Bilirubin levels: 2-5 mg/dL
  • Clinical features: Mild Jaundice (following illness, stress, starvation)
  • Presentation: 3%-7% of population, mainly in adolescents & young adults
  • Labs: Normal AST, ALT, ALP
116
Q

Dubin Johnson Syndrome

A
  • Inherited Unconjugated Hyperbilirubinemia - inherited ABC Transporter deficiency
  • Presentation: Adolescents & young adults
  • Labs: Elevated conjugated Bilirubin, Normal AST, ALT, ALP
117
Q

Methanol Toxicity

A
  • Methanol (byproduct of excessive alcohol consumption) oxidixed via Alcohol Dehydrogenase to Formaldehyde (toxic) inside Liver, Neurons, & Retinal cells
  • Clinical features: Mental & visual disturbances (snowstorm effect), Metabolic Acidosis, Blindness, Death
  • Treatment: Ethanol (higher affinity), Fomepizole (ADH competitive inhibitor), Bicarbonate (Metabolic Acidosis Tx), Hemodialysis (Metabolic Acidosis Tx)
118
Q

Ethylene Glycol Toxicity

A
  • Ethylene Glycol (found in Antifreeze) oxidized to Glycoaldehyde (toxic) via Alcohol Dehydrogenase, which leads to Glycolic Acid which is changed to Oxalic Acid
  • Clinical features: Metabolic Acidosis, cerebral & renal damage, hypocalcemia, death
  • Treatment: Fomepizole or Ethanol (ADH inhibition), Calcium Carbonate (Metabolic Acidosis Tx), Hemodialysis & Respirator
119
Q

Stigmata of Chronic Cirrhosis

A
  • Spider Angioma
  • Ascites - due to decreased Albumin & portal Hypertension
  • Gynecomasatia - due to inactivated Testosterone & aromatase conversion to Estrogen
120
Q

Vitamin A Deficiency

A
  • Risk factors: Dietary deficiency (fat free diet, lack of sources), Fad diets, Fat Malabsotpion (CF, Obstructive Jaundice)
  • Clinical features: Night blindness (delayed Rhodopsin regeneration), Xeropthalmia (conjunctive & cornea dryness), Blind spots, Keratomalacia (corneal erosion & ulceration), Increasaed pulmonary infection risk, Immune deficiency (weak innate immunity)
121
Q

Vitamin A Clinical Uses

A
  • Retinol or B-Carotene: Detary defiency treatment
  • Retinoid Acid: Acne treatment
  • Trans Retinoic Acid: Acute Promyelocytic Leukemia treatment
122
Q

Hypervitaminosis A

A
  • Clinical features: Dry/pruritic/itchy/peeling skin, benign intracranial hypertension, headache
  • Labs: Hepatomegaly & altered LFTs
123
Q

Vitamin D Deficiency

A
  • Labs: Low serum Ca & P, decreased bone mineralization
  • Risk factors: Inadequate sunlight exposure, nutritional deficiency (decreased intake, fat malabsorption, exclusively breastfed babies), chronic renal failure, chronicl liver disease
124
Q

Rickets

A
  • Vit D deficiency in children
  • Clinical features: Bow-leg deformity, enlarged epiphysis at wrist & ankles, rachitic rosary (costochondroal junction overgrowth), pigeon chest deformity, frontal bossing (delayed fontanelle closing), delayed teethin in infants, kyphosis, curved femur & humerus, soft/pliable bones
  • Labs: Elevated serum ALP, low serum Ca & P, increased Parathyroid hormone release, increased demineralization of bone
  • Treatment: Vit D & Ca supplementation
125
Q

Osteomalacia

A
  • Vit D Deficiency in adults
  • Risk factors: Reduced sunlight exposure, dietary deficiency, renal or liver disease
  • Clinical features: Demineralized bones & susceptible to fracture, non-specific bone pain
  • Labs: Elevated serum ALP, low Ca & P
126
Q

Hypervitaminosis D

A
  • Increased tendency for ectopic/soft tissue mineralization, Hypercalcemia
  • Prolonged prescription medications lead to calcification in soft tissues
127
Q

Vitamin K Deficiency

A
  • Risk factors: Fat malabsorption (CF), prolonged used of broad-spectrum antibiotics
  • Clinical features: Hematuria, Melena (black tarry stools), Ecchymoses (brusing), Bleeding gums
  • Labs: Increased INR (Prothrombin time)
128
Q

Scurvy

A
  • Vit C Deficiency
  • Due to decreased hydroxyl groups/fewer Hydrogen bonds in Collagen
  • Clinical features: CT defects, Perifollicular hemorrhage (fragile BVs), sore bleeding gums, loose teeth, frequent bruising, impaired/delayed wound healing
129
Q

Beriberi

A
  • Thiamine (Vit B1) Deficiency
  • Affects Brain & Cardiac Muscle (aerobic tissues)
  • Clinical features: Polyneuropathy (Dry), Cardiovascular (Wet)
  • Labs: Low erythrocytes transketolase activity, serum Thiamine
130
Q

Wernicke-Korsakoff Syndrome

A
  • Vit B1/Thiamine deficiency
  • Cause: Chronic alcoholism
  • Clinical features: Neurologic manifestations, Ophthalmoglegia, Nystagmus, Ataxia, Confusion, Disorientation, Memory Loss, Confabulation
131
Q

Riboflavin (Vit B2) Deficiency

A
  • Cause: Nutritional
  • Clinical features: Cheiolosis (pallor, cracks, fissures at mouth angles), Glossitis (tongue inflammation & atrophy), Facial Dermatitis
132
Q

Niacin (Vit B3) Deficiency

A
  • Clinical features: Pellagra - Dermatitis (skin), Diarrhea (GIT), Dementia (CNS), Death
133
Q

Pyridoxine (Vit B6) Deficiency

A
  • Risk factors: Isoniazid therapy (Anti-TB drug) - inactivates Pyridoxine
  • Treatment: Pyridoxine supplements & INH
  • Clinical features: Microcytic anemia (reduced heme synthesis - low ALAS), Peripheral Neuropathy (reduced neurotransmitter synthesis), Increased CVD risk (high homocysteine), Seizures (reduced neurotransmitter synthesis)
134
Q

Cobalamin/Vit B12 Deficiency

A
  • Clinical features: Anemia, Neurological features - extremity tingling & numbness (due to Methylmalonate accumulation - myelination)
  • Anemia: Macrocytic (increased MCV) & Megaloblastic (bone marrow); due to Folate Trap
  • Labs: Increased MCV, Elevated serum Homocysteine, Elevated Methylmalonate, Reduced serum Vit B12
  • Risk factors: Lack of IF, Parietal cell destruction (Pernicious Anemia), Ileal mucosal disease/resection, Vegan diet
135
Q

Folate Deficiency

A
  • Clinical features: Macrocytic Anemia, No neuro features
  • Anemia: Macrocytic (increased MCV) & Megaloblastic (Bone marrow); due to Folate deficiency
  • Labs: Increased MCV, Elevated Homocystine, Normal serum Methylmalonate, Reduced serum Folate, Normal Vit B12
  • Risk factors: Malabsorption Syndrome/Intestinal Mucosal Disease, Pregnancy, Dietary lack of green leafy veggies, Folate antagonist treatment (Methotrexate - Dihydrofolate Reductase Inhibitor)
136
Q

Lysosomal Storage Disorders (LSD) Common Features

A
  • Mostly AR (exception of X-linked)
  • Commonly affects infants & young children
  • Clinical features: Hepatosplenomegaly (insoluble intermediates stored), Neuronal damage, Cell dysfunction (undigested material stored, macrophages activated, cytokines release)
  • Diagnosis: Enzyme assay in Leukocytes or Fibroblasts
  • Includes (Classification): Huler Syn. (Mucopolysaccharidose), Hunter Syn. (Mucopolysaccharidose), Tach-Sachs (Sphingolipidose), Gauchers Dx (Sphingolipidose), Fabry Dx (Sphingolipidose), Neimann-Pick Dx (Sphingolipidose), Metachromatic Leukodystrophy (Sphingolipidose), Pompe’s Dx (Glycogen Storage Dx), GSD II (Glycogen Storage Dx), I-Cell Dx
137
Q

Mucopolysaccharidoses

A
  • Type of LSD
  • Deficiency: Enzyme required for GAG degradation
  • Accumulating sustrate: Dermatan Sulfate & Heparan Sulfate (GAGs)
  • Degradation: By Lysosomes by removing 1 sugar at a time
  • Treatment: Enzyme Replacement Therapy
  • Includes: Hunter Syndrome & Hurler Syndrome
138
Q

Hurler Syndrome

A
  • LSD - Mucopolysaccharidose (MPS I H)
  • Deficiency: Alpha-L-Iduronidase
  • Accumulating Substrates: Dermatan Sulfate & Heparan Sulfate (GAGs)
  • Severity: Most
  • Clinical features: Corneal clouding, Mental retardation, Dwarfism, Coarse dysmorphic facial features, Upper airway obstruction, Hearing loss, Short stature, Hepatosplenomegaly, Restricted joint mobility, Ischemia, Early death
  • Diagnosis: Fibroblast assay
  • Urinalysis: Positive for GAGs
  • Treatment: Bone marrow or cord blood transfusion, Iduronidase enzyme replacement therapy
139
Q

Hunter Syndrome

A
  • LSD - Mucopolysaccharidose (MPS)
  • Deficiency: Iduronate Sulfatase
  • Accumulating substrates: Dermatan Sulfate & Heparan Sulfate (GAGs)
  • Severity: Milder MPS
  • Inheritance: X-Linked
  • Clinical features: No corneal clouding, Physical deformity, Coarse facial features, Mental Retardation (mild to moderate), Hepatosplenomegaly
  • Treatment: Hepatopoietic stem cell therapy, Enzyme replacement therapy
140
Q

Sphingolipidoses

A
  • Type of LSD
  • Characterization: Group of complex lipids containing alcohol Sphingosine instead of Glycerol
  • Sphingosine + FA = Ceramide
  • Classification: Glycosphingolipid/Glycolipid (contain Carb moiety linked to Ceramide) & Sphingophospholipid (contain Phosphoryl Choline moiety linked to Ceramide - Sphingomyelin)
  • Includes: Tay-Sachs Disease, Gauchers Disease, Fabry Disease, Diemann-Pick Disease, Metachromatic Leukodystrophy
141
Q

Tay-Sachs Disease

A
  • LSD - Spingolipidose
  • Deficiency: Beta-Hexosaminidase A
  • Accumulating substrates: Ganglioside GM2
  • Clinical features: Progressive neurodegeneration (3-6 months), Blindness, Developmental milestone regression, Fatal by 2-6
  • Labs/Microscopy: Lysosomal onion-shell inclusions, Cherry-red spot on Macula (neuron destruction)
  • Carrier Detection (heterozygous): Enzyme assays
142
Q

Gaucher Disease

A
  • LSD - Spingolipidose
  • Deficiency: Beta Glucosidase
  • Accumulating substrate: Glucosyl Cermaide (Glucocerebroside)
  • Most common LSD, commonly seen in Adults
  • Clinical features: Hepatosplenomegaly, Osteoporosis, No neurological damage
  • Histologic features: Cytoplasm enlarged, elongated, filled with Glucocerebroside - like “crumpled tissue paper”
  • Imaging: Distal Femur shaped like Erlenmeyer flask
  • Treatment: Enzyme replacement therapy
143
Q

Fabry Disease

A
  • LSD - Spingolipidose
  • Deficiency: Alpha Galctosidase
  • Accumulating substrate: Globoside/Ceramide Trihexose (in skin, kidneys, nerves, heart)
  • Inheritance: X-linked recessive
  • Clinical features: Peripheral neuropathy (tingling, buring extremities, acroparesthesia), Kidney damage, Heart attack, Stroke
144
Q

Neimann Pick Disease

A
  • LSD - Spingolipidose
  • Deficiency: Sphingomyelinase
  • Accumulating substrate: Sphinomyelin/Sphingophospholipid (in neuronal tissue)
  • Types/Clinical features: A - severe, infantile presentation, fatal by 2-3, red spot on macula/blindness; B - childhood presentation, hepatosplenomegaly
  • Histological features: Foamy cell appearance/Lipid droplet accumulation
145
Q

Metachromatic Leukodystrophy

A
  • LSD - Spingolipidose
  • Deficiency: Aryl Sulfatase A
  • Accumulating substrate: Sulfatide (neuron rich)
  • Clinical features: Progressive paralysis, Demyelination
146
Q

Pompe’s Disease

A
  • LSD - GSD
  • Cellular Glycogen degraded by Lysosomal Acid Maltase (1 Glucosidase —> 4 Glucosidase)
  • Accumulating substrate: Glycogen as vacuoles in lysosomes (in heart: cardiac failure, in muscle: myopathy, in kidney, in liver: hepatocellular damage)
  • ## Clinical features: Frog-like posture
147
Q

I-Cell Disease

A
  • LSD
  • Deficiency: Mannose 6-P - Ability to phosphorylate Mannose —> Defective Lysosome enzyme trafficking
  • Accumulating substrate: GAGs & Sphingolipids in Lysosomes
  • Clinical features: Skeletal abnormalities, Restricted joint movement, Coarse facial features, Psycomotor impairment, Death ~8 years old, Small orbits, Proptic eyes, Full/prominent mouth (Gingival Hypertrophy), short branched hands, Hepatosplenomegaly, Umbilical hernia, Limited hip & knee extension (similar to Hurlers except more severe & earlier age of onset)
  • Histological features: Fibroblast intracytoplasmic inclusions
148
Q

Copper Deficiency

A
  • Clinical featuers: Microcytic Anemia (Ceruloplasmin/Ferroxidase affects Iron mobilization), Increased bleeding/Hemorrhage (decreased Lysyl Oxidase, degraded vascular tissue), Hypopigmented hair
  • Labs: Low serum Copper, Low MCV
149
Q

Menkes Syndrome

A
  • Deficiency: Dietary Copper absorption
  • Inheritance: X-linked
  • Clinical features: Kinky gray hair (Tyrosinase), Aneurysms, Neurological dysfunction (low Lysyl Oxidase), Early age of presentation (1-2 years)
150
Q

Wilson Disease

A
  • Mutation: ATP7B (Copper Transporting ATPase gene) - Cupper attaches to Ceruloplasmin & excreted in Bile
  • Accumulation: Copper in liver, brain, eye
  • Inheritance: AR, allelic heterogeneity
  • Clinical features: Hepatitis & Cirrhosis, Kayser Fleischer corneal rings, Neuropsychiatric symptoms
  • Labs: Decreased serum Ceruloplasmin, increased Copper excretion in urinalysis, increased hepatic Copper
151
Q

Hemochromatosis Labs Values

A

High serum Ferritin, High serum Iron, Low TIBC (Total Iron Binding Capacity), High Transferrin Saturation

152
Q

Anemia Lab Values

A

Low serum Ferritin, Low serum Iron, High TIBC, Low Transferrin Saturation

153
Q

Iron Deficiency Anemia

A
  • Cause: Nutritional deficiency (vegans, low dietary vitamin C, Achlorhydria (low stomach pH), high dietary fiber)
  • At risk: Pregnancy, infants, blood donors
  • Clinical feature: Chronic bleeding, Hypochromic microcytic anemia, fatigue, pallor, weakness, dizziness, brittle nails, pica
  • Labs: Low serum Ferritin, low serum Iron, low Transferrin saturation %, increased TIBC, low Hemoglobin/Hematocrit, low MCV, low MCHC, low bone marrow iron stores
  • Dietary management: Iron rich foods, increase Vit C (heme iron - animal sources), reduce fiber
154
Q

Dietary Hemochromatosis

A
  • Excessive Iron absorption in skin, liver, pancreas
  • Cause: C282Y gene HFE mutation (allelic heterogeneity, compound heterozygote)
  • Inheritance: AR
  • Clinical features: Variable expressivity (males > females), delayed age of onset
155
Q

Hereditary Hemochromatosis

A
  • Excess Iron causing free radical formation & DNA damage
  • Clinical features: Acute synovitis/Chronic joint pain (knuckles), Chronic fatigue, Hepatomegaly, Cirrhosis, Hepatocellular carcinoma, Diabetes, Cardiac dysfunction, Bronze Diabetes
  • Labs: High serum Ferritin, high serum Iron, high Transferrin % Saturation, low TIBC
  • Management: Phelobotomy, Dietary modification - reduce red meat & increase fiber

DM (22 decks)

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