Aug 21, 2025
Food Family Risk of Allergy to 1 member (%; approximate) Legumes 5 Tree nuts (e.g. almond, cashew, hazelnut, walnut, Brazil) 35 Fish 50 Shellfish 75 Grains 20 Mammalian milks 90 Rosaceae (pitted fruits) 55 Latex-food 35 Food-latex 11
OSMOTIC DIARRHEA SECRETORY DIARRHEA Due to the presence of undigested/ unabsorbed osmotic substances in the gut lumen. Due to the active secretion of water, electrolyte or both,due to bacterial/viral toxins Moderate volume of stools Large volume of stools Reduces with fasting No effect of fasting The stool of the osmolar gap is ≥ 100 mOsm/L. The stool of the osmolar gap is < 50 mOsm/L.
Parameter No dehydration Some dehydration Severe dehydration The clinical or mental status of the child The child is active and alert. The child is irritable and restless. The child is lethargic or comatose (unconscious). Eyes of the child Normal Sunken Very sunken and dry Tears of the child Present Absent Absent Oral mucosa of the child (tongue, mouth, and lips) Wet Dry Very dry (parched) Thirst The child is not thirsty and drinks normally. The child is thirsty and drinks eagerly. The child is unable to drink. Skin pinch test Wrinkles go back quickly or immediately. Wrinkles go back slowly. Wrinkles go back very slowly, or there is tenting of the skin (it does not go back at all).
Gene Name and function Associated NOD2 Nucleotide binding oligomerization domain containing protein 2- Involved in innate immune responses Crohn's disease IL10 Codes for IL-10; Involved in immune tolerance Crohn's disease IL10RAIL10RB IL-10 Receptors, Involved in immune tolerance Crohn's disease IL23R Receptor for 10-23; Part of Th-17 Pathway Crohn's disease TKY2 Tyrosine Kinase-2, Part of Th17 Pathway Crohn's disease
Ulcerative colitisIRMG Immunity-related GTPase M; Role in Autophagy Crohn's disease ATG16L1 Autophagy related 16 like 1; Role in Autophagy Crohn's disease SLC22A4 Solute carrier family 22 members 4; A Solute Transporter Crohn's disease CCL2 C-C motif chemokine ligand 2; Monocyte Chemotaxis Crohn's disease CARD9 Caspase recruitment domain family member 9; Involved in oxidative stress and apoptosis regulation Crohn's disease
Ulcerative colitisIL2 IL-2; T-Cell Regulation Crohn's disease MUC19 Mucin-19; Role in epithelial barrier formation Crohn's disease
Ulcerative colitis
Items Points 1. Abdominal pain 4. Number of stool per 24 hr No pain 0 0-2 0 Pain can be ignored 5 3-5 5 Pain cannot be ignored 10 6-8 10 2. Rectal bleeding >8 15 None 0 5. Nocturnal stool (any episode causing awakening) Small amount only, in less than 50% of stools 10 No 0 Small amount in more than 50% of stools 20 Yes 10 Large amount, (> 50% of stool content) 30 3. Stool consistency of most stools Formed 0 6. Activity level
No limitation of activity0 Partially formed 5 Occasional limitations of activity 5 Completely unformed 10 Severe restricted activity 10 Sum of PUCAI: 0-85
HD (< 1) Functional Constipation (> 1) Passage and meconium Delayed Normal Onset < 1 year age > 1 year age (Nelson - > 2 year) Encoprasis and stool withholding No Yes FTT Yes No Enterocolitis Yes No Abd. Distension Yes No DRE Empty rectum
Gush of liquid stools on withdrawal of fingersStool + in rectum Barium enema Recto sigmoid Ratio < 1 Transition Zone + Recto sigmoid Ratio > 1 Transition Zone - RAIR No Yes Rectal Biopsy No Ganglion cells Ganglion cells
Blood Stool Urine Type of jaundice Hct Unconjugated Bilirubin (Indirect) Conjugated Bilirubin (Direct) Alkaline phosphatase Aminotransferases Cholesterol Color Bilirubin Urobilinogen Hemolytic ↓ ↑↑ N N N N N 0 ↑ Gillbert’s syndrome N ↑ N N N N N 0 N or ↓ Abnormal conjugation N ↑ N N N N N 0 N or ↓ Hepatocellular damage N ↑ ↑ ↑↑ ↑↑ N N ↑ ↑ Obstructive Detective excretion N N N N N N N ↑ N Intrahepatic cholestasis N N ↑ N N N or ↑ Pale ↑ ↓
Crigler-Najjar Syndrome Feature Type I Type II Gilbert’s Syndrome Total Serum bilirubin, µmol/L (mg/dL) 310-755 (usually > 345) (18-45) (usually > 20) 100-430 (usually ≤ 345) (6-25)(usually ≤ 20) Typically ≤ 70 µmol/L (≤ 4 mg/dL in absence of fasting or hemolysis Routine liver tests
Response to phenobarbital
Kernicterus
Hepatic histologyNormal
None
Usual
NormalNormal Decrease bilirubin by > 25%
Rare
NormalNormal Decreases bilirubin to normal
No Usually normal: Increased lipofuscin pigment in someBile characteristic Color Bilirubin fractions
Pale or colorless> 90% unconjugated
PigmentedLargest fraction (mean: 57%) monoconjugates
Normal dark color
Mainly deconjugates but monoconjugates increased (mean: 23%)Bilirubin UDP-glucuronosyltransferase activity
Inheritance (all autosomal)Typically absent: Traces in some patient
RecessiveMarkedly reduced: 0-10% of normal predominantly recessive Reduced: Typically 10-33% of normal
Promoter mutation: Recessive
Missense mutations: 7 of 8 dominant;
1 reportedly recessive
Stage Symptoms Signs EEG findings Stage I An altered sleep-wake cycle, alternating lethargy, euphoria, and apparent normalcy is found in some children. Trouble drawing simple figures and cannot perform age-related mental tasks and calculations. Normal EEG Stage II Drowsiness, disorientation, inappropriate behavior, agitation, and mood swings (Abnormally valid behavior). Asterixis (flapping tremors), Fetor hepaticus, and bladder and bowel incontinence. Generalized slow rhythm Stage III Stupor but arousable and incoherent speech. Asterixis, rigidity, hyperreflexia and extensor reflexes. Triphasic waves Stage IV Onset of comaIVa: Responds to painful stimuliIVb: No response Absence of asterixis, Arelfexia and flaccidity. Marked slowing of EEG, delta waves will appear, and in terminal areas, electrocortical silence.
PFIC 1 |
PGIC 2 |
PFIC 3 |
|
Inheritance |
Autosomal recessive |
||
Chromosome |
18q21-22 |
2q24 |
7q21 |
Gene |
ATP8B1 |
ABCB11/BSEP |
ABCB4/MDR3 |
Protein |
FIC1 |
BSEP |
MDR3 |
Location |
Hepatocyte, colon and intestine |
Hepatocyte canalicular membrane |
|
Function |
ATP-dependent aminophospholipid flippase is involved in transporting phosphatidyl serine across the plasma membrane. |
ATP-dependent bile acid transport |
ATP-dependent phosphatidylcholine translocation |
Phenotype |
Progressive cholestasis, Diarrhea , Steatorrhea, Growth failure, Severe pruritis |
Rapidly progressive cholestatic giant cell hepatitis , Growth failure, Pruritis. |
late-onset cholestasis Portal hypertension, Minimal pruritis, Intraductul and gallbladder lithiasis |
Histological features |
Initial bland cholestatic; coarse, granular canalicular bile on electron microscopy |
Neonatal giant cell hepatitis and amorphous canalicular bile on EM |
The proliferation of bile ductules periportal fibrosis, eventual biliary cirrhosis |
Biochemical features |
Normal serum GGT; bile acid concentration is high in serum and low in bile secretion |
Elevated serum GGT Low to absent biliary PC Absent serum LPX Normal bile concentration in bile secretion. |
|
Treatment |
Biliary diversion Ileal exclusion Liver transplantation with postoperative diarrhoea, steatorrhea, and fatty liver. |
Biliary diversion Liver transplantation |
Liver transplantation UDCA, if residual PC secretion |
Also read: NEET SS Pediatric Neonatology Important Topics
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