Sandbox : anmol

Glycogen storage disease
Overview
Classification Glycogen storage disease type I Glycogen storage disease type II Glycogen storage disease type III Glycogen storage disease type IV Glycogen storage disease type V Glycogen storage disease type VI Glycogen storage disease type VII
Pathophysiology
Differentiating Glycogen storage disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Differential Oliguria

Classification by etiology	Etiology	Clinical manifestations										Paraclinical findings											Comments
		Symptoms and signs										Lab findings						Imaging
		Fatigue/Lethargy	Thirst	Dizziness/Confusion	Muscle weakness/cramp	Somatic/visceral pain	Vomiting	Diarrhea	Tachypnea	Haematuria/Proteinuria	Edema	CBC	KFT	Electrolytes	Urine analysis	ABG	Other	Ultrasound	X-ray	CT	MRI	Other
Prerenal	Alcohol poisoning	+	-	+/-	-	+/-	+	+/-	-	-	-	Prolonged PT	Elevated creatinine with normal BUN may indicate isopropyl alcohol poisoning	Decreased serum sodium	-	Decreased bicarbonate	- Serum glucose level Serum blood alcohol level Elevated hepatic transaminases Toxicology screen for acetaminophen and salicylates	-	-	-	-	-	Serum osmolality should be calculated Thiamine must be given to avoid Wernicke's encephalopathy
	Aspergillosis	+/-	-	-	-	-	-	-	+/-	-	-	-	-	-	-	-	Aspergillus precipitins allergy test is positive IgE is > 1000 IU/dl Fungi are identified via: Gomori methenamine silver stain Calcofluor Positive culture result from sputum, needle biopsy, or bronchoalveolar lavage Hyphae are demonstrated Elevated galactomannan level in bronchoalveolar fluid	-	Pulmonary infiltrates Mucoid plugging Central bronchiectasis Mass in the upper lobe surrounded by a crescent of air Solitary or multiple cavities	Halo sign (ground-glass appearance with nodules) Defines bronchiecstasis May show evidence of wedge-shaped pulmonary infarction Granulomata, tissue necrosis, and blood vessel invasion may be noted	-	-	Polymerase chain reaction (PCR) assays could be useful in diagnosis of invasive aspergillosis
	Cholera	+/-	+	-	-	-	+/-	+	-	-	-	Leukocytosis without left shift is noted Elevated hematocrit	Elevated blood urea nitrogen Elevated creatinine	Serum sodium < 135 mmol/l Elevated calcium Elevated magnesium	-	Elevated lactate Serum bicarbonate < 15 mmol/l	Stool is used in dark field examination or PCR to visualize treponema pallidum Stool culture is carried out using thiosulfate-citrate-bile-sucrose-agar Serotyping may be performed using an anti-serum Elevated serum protein is noted Elevated serum-specific gravity is noted Elevated blood glucose may be detected	-	-	-	-	-
	Congestive heart failure (CHF)	+	-	-	-	-	-	+	-	-	May indicate anemia Leukocytosis may be detected	Elevated BUN Elevated creatinine	Serum sodium may be decreased Serum potassium may be elevated	-	Serum bicarbonate may be decreased Serum lactate may be elevated Metabolic acidosis may be present	Brain natriuretic peptide (BNP) or N -terminal prohormone BNP may be elevated and indicate ventricular dilatation Cardiac troponins may be elevated Pulse oximetry may indicate hypoxemia	-	May demonstrate: Cardiomegaly Pulmonary hypertension Pleural effusions	More accurate visualization of pulmonary edema	-	Useful in detecting congenital cardiac abnormalities and assessment valvular heart disease Delayed enhancement cardiovascular magnetic resonance imaging is useful in identifying the etiology of acute chest pain	Echocardiography demonstrates decreased ejection fraction Also demonstrates left and right ventricular function and filling pressures Electrocardiogram (ECG) may indicate a myocardial infarction or ischemia, arrhythmia or atrioventricular block Nuclear imaging can be used to assess heart function and damage in CHF, such as: ECG-gated myocardial perfusion imaging ECG-gated single-photon emission CT
	Dehydration - Burns -Cutaneous loss e.g. sweating - Inadequate water intake - Salt-wasting nephropathy	+	+	-	+/-	-	+/-	+/-	-	-	-	-	Elevated BUN Elevated creatinine	Serum sodium < 135 mmol/l Serum chloride is decreased Elevated potassium	Ketones and glucose] may be detected Urine specific gravity is elevated	Serum bicarbonate is decreased Elevated lactate	Hypoglycemia may be detected	-	-	-	-	-	Oral rehydration therapy is the usual line of treatment
	Diarrhea and/or vomiting	+/-	+/-	-	-	-	+	+	-	-	-	Leukocytosis with predominant neutrophilia may be detected Elevated ESR may be detected	-	Stool anion gap should be calculated	Urine may be postive for: Ketones Organic acids Ester-to-free carnitine ratio Porphobilinogen Aminolevulinic acid	-	Stool pH < 5.5 Stool culture may be positive for vibrio and plesiomonas species, [[]clostridium difficile]], salmonella, shigella, campylobacter, and yersinia enterocolitica Serotyping for E.coli O157:H7 Enzyme immunoassay may be positive for rotavirus or adenovirus Elevated liver transaminases may be detected Elevated pancreatic amylase and lipase may be detected	Abdominal ultrasound may be useful to detect cause	Upper gastrointestinal radiography with follow-through may be useful to detect cause	-	Brain MRI may be useful to detect cause	Esophagogastroduodenoscopy may be useful to detect cause	Treatment must include volume replacement
	Drugs/toxins - ACE inhibitor - Aminoglycosides - Amphotericin B - Contrast material - Cyclosporin - Diuretics - Digitalis - Heavy metals - Indomethacin - Tacrolimus - NSAIDs	+/-	+/-	+/-	+/-	+/-	+/-	+/-	+/-	+/-	+/-	-	Elevated BUN Elevated creatinine Elevated creatine kinase	Potassium > 5.5 mEq/l with ACE inhibitors Hypomagnesemia, hypokalemia, hypocalcemia, and hypophosphatemia with aminoglycosides	Urine sample may detect drug Glucosuria, aminoaciduria, phosphaturia, ketonuria and uricosuria may be detected Urine osmolality should be calculated Urine pH should be detected Bland urine sediment may be detected Hyaline casts may be detected Granular casts may be detected Red blood cell casts may be detected Dysmorphic red blood cells may be present Red blood cell casts may be detected Absence of proteinuria differentiates between acute kidney injury and acute interstitial nephritis	Serum osmolar gap should be calculated Elevated lactate may be detected Metabolic acidosis may be present	Blood glucose should be measured Toxicology screening is crucial in aiding diagnosis Rapid immunoassay screens may also aid diagnosis	Useful in drug-induced nephropathies	Some radio-opaque substances may be visualized Ingested drug packets may also be visualized	-	-	ECG may be helpful in diagnosing arrhythmias
	Esophageal varices bleeding	+/-	-	-	-	+/-	-	-	-	-	-	May show normocytic normochromic anemia Hematocrit may be decreased	In uncontrolled bleeding: Elevated BUN Elevated creatinine	-	-	-	-	Duplex doppler ultrasonography can determine: Velocity and direction of portal flow Determine portal vein patency Endoscopic ultrasonography may also be useful	Abnormal opacities representing paraesophageal varices may be detected outside the esophageal wall The short or long segment of the descending aorta may be obliterated A posterior mediastinal or intraparenchymal mass may be noted A dilated azygous vein may be noted and is described as a "downhill varix" Dilated collaterals may lead to a widened superior mediastinum Barium swallow demonstrates snake-like filling defects	Can visualize the entire portal venous system	Can visualize the entire portal venous system Portrays esophageal varices as flow voids	Positive emission tomography can determine portal hypertension and evaluate esophageal varices A flexible endoscope may also aid diagnosis Bleeding is stopped by vasopressin, balloon tamponade, or transjugular intrahepatic portosystemic shunt to name a few.
	Heart disease -Congenital -Acquired	+/-	-	-	-	-	-	-	+/-	-	+/-	ESR and CRP may be elevated	BUN and creatinine may be elevated	-	-	-	For coronary heart disease, cardiac stress testing may be performed: For rheumatic heart disease, the following tests may be performed: Throat culture may be positive for group A beta hemolytic streptococcus Rapid antigen detection test may be positive for group A streptococcal antigen Antistreptococcal antibodies may be detected Heart reactive antibodies may be detected against M protein Rapid detection test for D8/17 B cell markers Hyperoxia test can distinguish cardiac from non - cardiac causes of cyanosis Pulse oximetry is useful in congenital heart diseases	Ultrasound visualizes anatomy of the heart and in particular, the chambers and chamber flow	May visualize heart anatomy and vessels such as: Cardiomegaly Dextrocardia Abnormal cardiac silhouette	-	-	ECG may demonstrate: Arrhythmias such as: Sinus tachycardia Multifocal atrial tachycardia Prolonged PR interval in atrioventricular block Atrial fibrillation Atrial flutter Pericarditis by ST segment elevation mostly in lead II, III, aVF, and V4 - V6 Echocardiography may detect the following: Ventricular dysfunction Left and right ventricular hypertrophy Chronic mitral valve disease Mitral stenosis Mitral insufficiency Left atrial dilation Left atrial enlargement Aortic stenosis Aortic insufficiency Tricuspid insufficiency Pulmonary stenosis Pulmonary insufficiency	History and physical examination (auscultation of the heart) are important for diagnosis
	Hemorrhage	-	-	-	-	-	-	-	-	-	-	May indicate normocytic normochromic anemia Prothrombin time, activated partial thromboplastin time and bleeding time may be elevated	BUN and creatinine is elevated in severe hemorrhage	-	-	pH may be 7.30-7.35 with mild to severe metabolic acidosis Serum sodium and chloride may become elevated with high volume isotonic saline Hyperchloremia may cause a non–ion gap acidosis Hypocalemia may occur with rapid blood transfusion	-	Sensitive to bleeding within body cavities Focused abdominal sonographic technique (FAST) can detect peritoneal cavity fluid	Chest x - ray may demonstrate bilateral opacities in the lung field and indicate hemothorax Abdominal x - ray may demonstrate hemoperitoneum Incomplete calcified margins of a dilated aorta may indicate a ruptured abdominal aortic aneurysm Absence of the psoas shadow may suggest retroperitoneal blood	May visualize intrathoracic, intra-abdominal, and retroperitoneal bleeding However, ultrasound is more often used	-	Esophagogastroduodenoscopy is often used to visualize the source of bleeding in the upper GI Colonoscopy may be used in the lower GI Angiography and nuclear medicine scanning are also useful in diagnosing the source of bleeding
	Hemolysis	+/-	-	-	-	-	-	-	-	+/-	-	Elevated or decreased mean corpuscular volume and mean corpuscular hemoglobin Thrombocytopenia Microcytic hypochromic anemia Macrocytic anemia Elevated red blood cell distribution width may indicate anisocytosis Reticulocyte count may be increased	-	-	-	-	Peripheral blood smear may demonstrate: Smudge cells Small lymphocytes Polychromasia Spherocytes Schistocytes Serum lactate dehydrogenase may be elevated Serum haptoglobin may be decreased Unconjugated or indirect bilirubin may be elevated The following tests may also aid diagnosis: Direct antiglobulin test Urine free hemoglobin test Urine hemosiderin test Red blood cell survival test Cold agglutinin titer Glucose-6-phosphate dehydrogenase screen Sickle cell screen	May visualize hepatomegaly or splenomegaly or hepatosplenomegaly	-	-	-	-
	Hepatorenal syndrome	+/-	-	-	-	+/-	+/-	-	-	+/-	+/-	Leukocytosis may indicate spontaneous bacterial peritonitis	Reduced glomerular filtration rate Serum creatinine > 1.5 mg/dL or 24 - hour creatinine clearance < 40 mL/min	Serum sodium < 130 mEq/L	Proteinuria < 500 mg/d Urine volume < 500 mL/d Urine sodium < 10 mEq/L Urine osmolality > plasma osmolality Urine red blood cell count < 50 per high-power field	-	Prolonged prothrombin time Alpha feto-protein may be positive Cryoglobulinemia may be seen	Abdominal ultrasound to exclude hydronephrosis and intrinsic renal disease	-	-	-	Echocardiography is used to evaluate right ventricular preload, ventricular filling pressures, and cardiac function
	Ischemic cardiomyopathy	+/-	-	-	-	-	-	-	+/-	-	+/-	In high cardiac output, anemia may be detected	Elevated creatinine	Serum sodium may be decreased Serum postassium may be chronically low Serum magnesium may be decreased	-	-	Cardiac enzymes may be elevated indicating a recent myocardial infarction, and include: Troponin Creatine kinase Creatine kinase - MB B-type natriuretic peptide level reflects volume status	-	May detect abnormal cardiac silhouette	CT with angiography can detect the following: Biventricular volume Ejection fraction Wall motion Myocardial perfusion Hypertrophic cardiomyopathy Left ventricular noncompaction Arrhythmogenic right ventricular dysplasia Congenital malformation	MRI with gadolinium–diethylene-triamine pentaacetic acid (DTPA) can evaluate mid-wall fibrosis	Echocardiography is the gold standard in diagnosis and indicates an ejection fraction ≤35% Echo may also diagnose pulmonary embolism, right ventricular dilation or pericardial effusion with tamponade Electrocardiogram is useful in detecting; Left ventricular enlargement Atrial fibrillation Premature ventricular complexes Left ventricular hypertrophy Left bundle-branch block Atrioventricular block Right-sided heart catheterization can determine volume status Endomyocardial biopsy may also be helpful in diagnosis
	Liver cirrhosis	+/-	-	+/-	+/-	+/-	-	-	-	-	+/-	-	-	-	-	-	Liver function testing is crucial for diagnosis The following serologic tests are used as indirect markers of fibrosis: Aspartate aminotransferase to platelet ratio FibroTest/FibroSure Hepascore FibroSpect	Doppler ultrasound may demonstrate: Portal blood flow and flow velocity Hepatic artery enlargement Vascular resistance Multifocal or focal lesions or masses Hepatic contour Hepatic texture Portal collaterals Ascites Splenomegaly Portal vein thrombosis	May demonstrate the following: Ascites Bowel perforation Gynecomastia (enlargement of breast tissue) Azygos vein enlargement Variceal hemorrhage Pleural effusion	CT can detect the following: Morphologic changes in the liver Collaterals and shunts Lesions Hyperattenuating nodule of hepatocellular carcinoma Portal vein thrombosis Splenomegaly and gallbladder enlargement	MRI can detect the following: Morphologic changes in the liver Vacular patency Lesions Tumor invasion Portal vein thrombosis Splenomegaly and gallbladder enlargement Steatosis	Nuclear imaging can determine hepatic function and portal hypertension Angiography can determine hepatic perfusion and the development of shunts and tumors	Liver cirrhosis is irreversible and a transplant is usually needed
	Malignant hypertension	+/-	-	+	-	-	+/-	-	+/-	-	+/-	May demonstrate microangiopathic hemolytic anemia	Elevated BUN Elevated creatinine Azotemia	Hypernatremia Hyperphosphatemia Hyperkalemia or hypokalemia	Proteinuria Microscopic hematuria Red blood cell or hyaline casts	Acidosis	It is useful to also test the following: Cardiac enzymes Urinary catecholamines and vanillylmandelic acid Thyroid-stimulating hormone level Elevated plasma renin, angiotensin II, and aldosterone is often detected	-	May demonstrate the following: Cardiac enlargement Pulmonary edema Rib notching Aortic coarctation Mediastinal widening Aortic dissection	-	-	Electrocardiography may indicate the following: Ischemia Infarct Evidence of electrolyte abnormalities or drug overdose Echocardiography may indicate the following: Left atrial enlargement Left ventricular hypertrophy